Property Summary

NCBI Gene PubMed Count 56
Grant Count 2
Funding $350,725.71
PubMed Score 20.62
PubTator Score 29.95

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.243 0.030
gastric carcinoma -1.200 0.015
psoriasis -1.900 0.000

Synonym

Accession P35858 B4DZY8 E9PGU3 ALS
Symbols ALS
ACLSD

Gene

PANTHER Protein Class (1)

 Grant Application (2)

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
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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.
More...