[1]
|
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
TISSUE=Kidney, Liver, and Placenta;
DOI=10.1006/geno.1994.1279; PubMed=8088832 [NCBI, ExPASy, EBI, Israel, Japan]
Lee P.,
Kuhl W.,
Gelbart T.,
Kamimura T.,
West C.,
Beutler E.;
"Homology between a human protein and a protein of the green garden pea.";
Genomics 21:371-378(1994).
|
[2]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-411.
TISSUE=Placenta, and Uterus;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[3]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 205-230, AND TISSUE SPECIFICITY.
DOI=10.1006/geno.1997.5026; PubMed=9417906 [NCBI, ExPASy, EBI, Israel, Japan]
Skvorak A.B.,
Robertson N.G.,
Yin Y.,
Weremowicz S.,
Her H.,
Bieber F.R.,
Beisel K.W.,
Lynch E.D.,
Beier D.R.,
Morton C.C.;
"An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).";
Genomics 46:191-199(1997).
|
[4]
|
VARIANTS PDE VAL-171 AND GLN-399, AND FUNCTION.
DOI=10.1038/nm1366; PubMed=16491085 [NCBI, ExPASy, EBI, Israel, Japan]
Mills P.B.,
Struys E.,
Jakobs C.,
Plecko B.,
Baxter P.,
Baumgartner M.,
Willemsen M.A.A.P.,
Omran H.,
Tacke U.,
Uhlenberg B.,
Weschke B.,
Clayton P.T.;
"Mutations in antiquitin in individuals with pyridoxine-dependent seizures.";
Nat. Med. 12:307-309(2006).
|
|
- CATALYTIC ACTIVITY: L-2-aminoadipate 6-semialdehyde + NAD(P)+ + H2O = L-2-aminoadipate + NAD(P)H.
- SUBUNIT: Homotetramer (By similarity).
- TISSUE SPECIFICITY: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.
- DISEASE: Defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy (PDE) [MIM:266100]. PDE is characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.
- SIMILARITY: Belongs to the aldehyde dehydrogenase family.
- SEQUENCE CAUTION:
- Sequence=AAC51935.1; Type=Frameshift; Positions=205, 230;
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=ALDH7A1";.
|
ExPASy Home page
YPRC Korea