Property Summary

NCBI Gene PubMed Count 44
PubMed Score 157.12
PubTator Score 121.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (19)

Disease log2 FC p
gastric cancer 1.200 1.5e-02
Waldenstrons macroglobulinemia 1.045 1.3e-02
chronic lymphocytic leukemia 1.619 1.2e-03
astrocytic glioma 1.200 2.1e-02
oligodendroglioma 1.600 2.0e-03
osteosarcoma -2.983 2.7e-03
sonic hedgehog group medulloblastoma -2.300 1.7e-04
cystic fibrosis -1.585 1.7e-04
glioblastoma -1.800 4.6e-02
atypical teratoid / rhabdoid tumor -1.400 6.9e-06
medulloblastoma, large-cell -2.600 1.6e-05
adrenocortical carcinoma -1.026 2.9e-02
pancreatic ductal adenocarcinoma liver m... -2.279 6.2e-03
ulcerative colitis -1.400 4.4e-03
interstitial cystitis -1.900 6.2e-06
adult high grade glioma -1.600 5.1e-04
primary Sjogren syndrome 1.300 4.7e-04
ovarian cancer 1.200 7.7e-03
pituitary cancer 1.200 7.8e-05

Gene RIF (28)

PMID Text
25558043 Pearl et al. identify 3 new pathogenic mutations in the ALDH5A1 gene previously unreported in the literature. EXON: 1 Nucleotide change: c.412 C>T Change in protein: p.L138F EXON: 4 Nucleotide change: c.754G>T Change in protein: p.Q252X EXON: 8 Nucleotide change: c.1360G>A Change in protein: p.A454T
24327614 The strongest association signal arose from an intronic region of the gene ALDH5A1, which encodes the mitochondrial enzyme succinic semialdehyde dehydrogenase (SSADH), an enzyme involved in gamma-aminobutyric acid metabolism.
24230997 Results show that opioid-dependent patients carrying the T allele of a functional variant in ALDH5A1 had a greater risk of being nonresponders to methadone maintenance treatment
23926001 Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are associated with pathogenesis of succinic semialdehyde dehydrogenase deficiency.
23825041 Missense mutation in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
23516105 Succinic semialdehyde dehydrognase deficiency is caused by a mutation of the Aldh5a1-gene resulting in a dysfunction of the enzyme succinic semialdehyde dehydrogenase--{REVIEW}
22437753 our study identified a novel homozygous ALDH5A1 gene mutation associated with SSADH deficiency.
21438145 the duplication (6)(p22.2) and corresponding hyperactive level of SSADH activity may have negative consequences for GABA metabolism
20877624 Observational study of gene-disease association. (HuGE Navigator)
20659789 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20445195 Study seeks to determine whether cerebellar abnormalities are present in human succinic semialdehyde dehydrogenase deficiency on volumetric MRI, compared with radiographic and histologic studies in the mouse model.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20363598 This study indicated that global disruption of cortical networks in SSADH KO mice, affecting both excitatory and inhibitory neurons.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19667317 SSADH deficient patients have widespread reduction in benzodiazepine receptor (BZPR) binding, suggested by high endogenous brain GABA levels that downregulate GABA(A)-BZPR binding site availability.
19343046 Observational study of gene-disease association. (HuGE Navigator)
19300440 Redox-switch modulation of human SSADH by dynamic catalytic loop
19086053 Observational study of gene-disease association. (HuGE Navigator)
18505418 within the 65-85 years age range, the T/T genotype is overrepresented in subjects with impaired cognitive function
18505418 Observational study of gene-disease association. (HuGE Navigator)
17913586 Meta-analysis of gene-disease association. (HuGE Navigator)
17457693 Deficiency in humans causes ggamma-hydroxybutyric aciduria.
16786440 The unexpected pattern of human SSADH polymorphism compared to interspecific findings outlines the possibility of a recent positive selection on some variants relevant to new cognitive capabilities unique to humans.
16406321 Observational study of gene-disease association. (HuGE Navigator)
15642443 Observational study of gene-disease association. (HuGE Navigator)
14981524 Observational study of gene-disease association. (HuGE Navigator)
14981524 Higher SSADH activity is associated with higher intelligence across the general population.
12629812 High activity of this protein probably indicates disorders in lymphocyte energy state.

AA Sequence

MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWL      1 - 70
PAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLAR     71 - 140
IITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAM    141 - 210
ITRKVGAALAAGCTVVVKPAEDTPFSALALAELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKI    211 - 280
SFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQR    281 - 350
GIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFF    351 - 420
EPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMV    421 - 490
GVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGGL                             491 - 535
//

Text Mined References (47)

PMID Year Title
25558043 2014 Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24327614 2014 Suggestive association with ocular phoria at chromosome 6p22.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24230997 2014 ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment.
23926001 2013 [Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].
23825041 2013 A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
23516105 2013 [Succinic semialdehyde dehydrogenase deficiency: an inheritable neurometabolic disease].
22437753 2012 A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.
22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
21438145 2011 Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20659789 2010 Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.
20445195 2010 Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20363598 2010 Effect of gene dosage on single-cell hippocampal electrophysiology in a murine model of SSADH deficiency (gamma-hydroxybutyric aciduria).
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19667317 2009 Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19300440 2009 Redox-switch modulation of human SSADH by dynamic catalytic loop.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18505418 2008 Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17913586 2007 Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.
17457693 2007 Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
16786440 2006 SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions.
16406321 2006 Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
16199352 2005 High-level expression and characterization of the recombinant enzyme, and tissue distribution of human succinic semialdehyde dehydrogenase.
15642443 2005 An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15037717 2004 Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
14981524 2004 A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14635103 2003 Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12629812 2000 [Morphological and functional characteristics of lymphocytes of mothers of children with Down syndrome].
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12208142 2002 Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.
11901270 2002 Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
11243727 2001 Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
9683595 1998 Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
9059628 1997 Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization.
7814412 1995 Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression.
6470007 1984 Interactions between 4-aminobutyrate aminotransferase and succinic semialdehyde dehydrogenase, two mitochondrial enzymes.