Property Summary

NCBI Gene PubMed Count 48
Grant Count 779
R01 Count 462
Funding $97,304,237.43
PubMed Score 1238.01
PubTator Score 167.82

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
breast carcinoma -1.100 0.000
cystic fibrosis -1.100 0.001
inflammatory breast cancer -2.100 0.000
acute myeloid leukemia -2.500 0.031

Gene

PANTHER Protein Class (2)

PDB

2J6L   4X0T   4X0U   4ZUK   4ZUL   4ZVW   4ZVX   4ZVY  

 MGI Term (1)

 GWAS Trait (1)

Gene RIF (33)

PMID Text
26555630 This study found five novel mutations of ALDH7A1 gene in pyridoxin dependent epilepsy.
26260980 Binding to ALDH7A1 is associated with movement of the C-terminus into the active site which stabilizes the substrate anchor loop.
26232297 Direct sequencing of the ALDH7A1 gene revealed one novel (c.297delG, p.Trp99*) and two already reported (c.328C>T, p.Arg110*; c.584A>G, p.Asn195Ser) mutations
26224730 Using a custom array, study identified heterozygous intragenic deletions in the ALDH7A1 gene in 5 of 6 patients with pyridoxine-dependent epilepsy and positive biomarkers who had only a single mutation identified by conventional sequence analysis
25213698 our study indicated that the ALDH7A1 rs13182402 polymorphism was associated with risk of ESCC in Chinese populations.
24664145 Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants
24122892 Antiquitin is expressed within glial cells in the brain and its dysfunction in pyridoxine-dependent epilepsy is associated with neuronal migration abnormalities.
23683770 Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding alpha-aminoadipic semialdehyde dehydrogenase (alpha-AASAD) enzyme in the lysine catabolic pathway
23647301 For patients with NSCLC, low ALDH7A1 expression was associated with a decreased incidence of cancer recurrence.
23376216 molecular analysis of seven Pyridoxine-dependent epilepsy Tunisian patients revealed a common missense c.1364T>C mutation in the ALDH7A1 gene; the conservation of a single genotype within the c.1364T > C mutation suggested that this variation has a single origin
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AA Sequence

MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYC      1 - 70
PANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKIL     71 - 140
VEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMI    141 - 210
CGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGK    211 - 280
QVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRL    281 - 350
KKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHD    351 - 420
ASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGA    421 - 490
EIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ                         491 - 539
//

Text Mined References (52)

PMID Year Title
26555630 2015 A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
26260980 2015 Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1.
26232297 2015 First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
26224730 2015 Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
25213698 2014 The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma.
24664145 2014 Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24122892 2014 Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
23683770 Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.
23647301 2013 ALDH7A1 expression is associated with recurrence in patients with surgically resected non-small-cell lung carcinoma.
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