Property Summary

NCBI Gene PubMed Count 56
PubMed Score 20.62
PubTator Score 29.95

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (3)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.243 3.0e-02
gastric carcinoma -1.200 1.5e-02
psoriasis -1.900 5.3e-26

Gene RIF (41)

PMID Text
26704943 Mutations in the IGFALS and low expression level of IGFALS proteins lead to growth and development retardation. [Review]
24423360 These gene dosage effects demonstrate that one functional IGFALS allele is insufficient to maintain normal ALS levels, endocrine IGF-I action, full growth potential, muscle size, and periosteal expansion.
24335034 Heterozygous IGFALS gene variants could be responsible for short stature in a subset of idiopathic short stature children with diminished levels of IGF-1, IGFBP-3 and ALS.
23488611 A novel homozygous mutation in IGFALS, c.380T>C (p.L127P), was identified in two siblings of a consanguineous family.
22689435 functional analysis supported a tumor-suppressive function for IGFALS in vitro.
22678306 Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with growth hormone insensitivity.
21664162 low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function.
21177759 D440N mutation in ALS generates a hyperglycosylated form with impaired secretion and complex formation, potentially leading to dysregulation of endocrine IGF, thus contributing to growth retardation
20943791 We describe that the human placenta expresses the mRNA and the protein for ALS, and we observed an increase in ALS mRNA expression and protein content in small compared with appropriate for gestational age placentas.
20810604 Common genetic variation in the IGF1 and SSTR5 genes seems to influence circulating IGF-I levels
20810604 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20634197 Meta-analysis of gene-disease association. (HuGE Navigator)
20591980 Heterozygosity for IGFALS mutations results in approximately 1.0SD height loss compared to wild type.
20591980 Observational study of gene-disease association. (HuGE Navigator)
20302654 Observational study of gene-disease association. (HuGE Navigator)
20155489 Findings suggest that common genetic variation in the ALS gene is not related to IGF-I levels and mammographic density.
20155489 Observational study of gene-disease association. (HuGE Navigator)
20142246 Plasma acid-labile subunit is positively associated with prostate cancer risk, and may interact biologically with IGF-I to affect carcinogenesis
19729943 14 different mutations of human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with very low serum levels of IGF-I & IGFBP-3 that remain low upon growth hormone stimulation[review]
19625176 Observational study of gene-disease association. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19207313 Serum levels of IGF-1, IGF-2, ALS, and IGFBP-3 were reduced in children with congenital disorders of glycosylation.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19129715 Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18463107 The clinical presentation of homozygous ALS mutations may, besides short stature, include microcephaly.
18362293 IGFALS sequence variants are unlikely to be a common association with pubertal delay in children with constitutional delay of groth and puberty.
18362293 Observational study of gene-disease association. (HuGE Navigator)
18349294 Observational study of gene-disease association. (HuGE Navigator)
18303074 Primary ALS deficiency due to IGFALS mutations should be considered as a possible cause of postnatal growth deficit in IGF-I-deficient patients in the absence of GH deficiency or insensitivity.
17726072 haploinsufficiency of the IGFALS gene has no discernible clinical effects
17546465 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17063263 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17063263 polymorphisms in the IGF-1R and IGFBP3 genes, but not IGF-1 or IGFALS, may be associated with altered survival among subgroups of breast cancer patients defined by menopausal status
16404426 Observational study of gene-disease association. (HuGE Navigator)
16114275 A modest reduction in post-natal growth in the null ALS mice and in the ALS-deficient patients was observed
15126567 Key role of ALS in regulating transendothelial IGF transport.
14762184 Inactivation of the IGFALS gene caused delayed onset of puberty in 17 year old boy
12364447 serum acid labile subunit levels were elevated in girls with central precocious puberty and decreased significantly during the first year of GnRH analog therapy
11914026 Total and free insulin-like growth factor I, insulin-like growth factor binding protein 3 and acid-labile subunit reflect clinical activity in acromegaly.

AA Sequence

MALRKGGLALALLLLSWVALGPRSLEGADPGTPGEAEGPACPAACVCSYDDDADELSVFCSSRNLTRLPD      1 - 70
GVPGGTQALWLDGNNLSSVPPAAFQNLSSLGFLNLQGGQLGSLEPQALLGLENLCHLHLERNQLRSLALG     71 - 140
TFAHTPALASLGLSNNRLSRLEDGLFEGLGSLWDLNLGWNSLAVLPDAAFRGLGSLRELVLAGNRLAYLQ    141 - 210
PALFSGLAELRELDLSRNALRAIKANVFVQLPRLQKLYLDRNLIAAVAPGAFLGLKALRWLDLSHNRVAG    211 - 280
LLEDTFPGLLGLRVLRLSHNAIASLRPRTFKDLHFLEELQLGHNRIRQLAERSFEGLGQLEVLTLDHNQL    281 - 350
QEVKAGAFLGLTNVAVMNLSGNCLRNLPEQVFRGLGKLHSLHLEGSCLGRIRPHTFTGLSGLRRLFLKDN    351 - 420
GLVGIEEQSLWGLAELLELDLTSNQLTHLPHRLFQGLGKLEYLLLSRNRLAELPADALGPLQRAFWLDVS    421 - 490
HNRLEALPNSLLAPLGRLRYLSLRNNSLRTFTPQPPGLERLWLEGNPWDCGCPLKALRDFALQNPSAVPR    491 - 560
FVQAICEGDDCQPPAYTYNNITCASPPEVVGLDLRDLSEAHFAPC                             561 - 605
//

Text Mined References (61)

PMID Year Title
26704943 2015 [Structure and function of insulin-like growth factor acid-labile subunits in mammalian homologues].
24423360 2014 IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration.
24335034 2013 Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23488611 2013 A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22689435 2012 Methylome analysis and integrative profiling of human HCCs identify novel protumorigenic factors.
22678306 2012 Genetic analysis of short children with apparent growth hormone insensitivity.
21664162 2011 Case report: low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function.
21396577 2011 Acid-labile subunit (ALS) deficiency.
21216879 2011 A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.
21177759 2011 D440N mutation in the acid-labile subunit of insulin-like growth factor complexes inhibits secretion and complex formation.
20943791 2011 Acid-labile subunit (ALS) gene expression and protein content in human placentas: differences according to birth weight.
20810604 2010 Eighteen insulin-like growth factor pathway genes, circulating levels of IGF-I and its binding protein, and risk of prostate and breast cancer.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20634197 2010 Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
20591980 2010 Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.
20389102 2010 Acid-labile subunit deficiency and growth failure: description of two novel cases.
20302654 2010 Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density.
20155489 2010 Common genetic variation of insulin-like growth factor-binding protein 1 (IGFBP-1), IGFBP-3, and acid labile subunit in relation to serum IGF-I levels and mammographic density.
20142246 2010 Plasma levels of acid-labile subunit, free insulin-like growth factor-I, and prostate cancer risk: a prospective study.
19729943 2009 Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19207313 2009 IGF system in children with congenital disorders of glycosylation.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19129715 2009 Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18463107 2008 Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.
18362293 2008 Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene.
18349294 2008 Risk of testicular germ cell tumors and polymorphisms in the insulin-like growth factor genes.
18303074 2008 Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17726072 2007 Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
17546465 2007 Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation.
17063263 2007 Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women: a report from the Shanghai Breast Cancer Study.
16507628 2006 Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.
16404426 2006 Polymorphisms of genes coding for insulin-like growth factor 1 and its major binding proteins, circulating levels of IGF-I and IGFBP-3 and breast cancer risk: results from the EPIC study.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16114275 2005 Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15126567 2004 The role of the acid-labile subunit in regulating insulin-like growth factor transport across human umbilical vein endothelial cell monolayers.
14762184 2004 Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12364447 2002 The acid-labile subunit of human ternary insulin-like growth factor-binding protein complex in girls with central precocious puberty before and during gonadotropin-releasing hormone analog therapy.
11914026 2001 Total and free insulin-like growth factor I, insulin-like growth factor binding protein 3 and acid-labile subunit reflect clinical activity in acromegaly.
11591653 2001 Protein-protein interaction panel using mouse full-length cDNAs.
10823924 2000 Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system.
10650966 2000 Conservation of a growth hormone-responsive promoter element in the human and mouse acid-labile subunit genes.
10512690 1999 Inflammation-related neutrophil proteases, cathepsin G and elastase, function as insulin-like growth factor binding protein proteases.
9786878 1998 Insulin-like growth factor-binding protein 5 complexes with the acid-labile subunit. Role of the carboxyl-terminal domain.
9497324 1998 Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit.
9446566 1998 Structural determinants of ligand and cell surface binding of insulin-like growth factor-binding protein-3.
2473065 1989 High molecular weight insulin-like growth factor binding protein complex. Purification and properties of the acid-labile subunit from human serum.
1384485 1992 Molecular cloning of the acid-labile subunit of the rat insulin-like growth factor binding protein complex.
1379671 1992 Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex.