Property Summary

NCBI Gene PubMed Count 44
Grant Count 13
R01 Count 7
Funding $1,698,145
PubMed Score 157.12
PubTator Score 121.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (19)

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)
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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.
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