ALDH5A1 wt Allele

Preferred Label : ALDH5A1 wt Allele;

NCIt synonyms : Mitochondrial Succinate Semialdehyde Dehydrogenase Gene; Aldehyde Dehydrogenase 5 Family, Member A1 Gene; Succinate-Semialdehyde Dehydrogenase Gene; Aldehyde Dehydrogenase 5 Family Member A1 wt Allele; Succinic Semialdehyde Dehydrogenase, NAD( )-Dependent Gene; SSDH; SSADH;

NCIt definition : Human ALDH5A1 wild-type allele is located in the vicinity of 6p22.3 and is approximately 42 kb in length. This allele, which encodes succinate-semialdehyde dehydrogenase, mitochondrial protein, plays a role in the metabolism of glutamate, succinate and gamma-aminobutyric acid (GABA). Mutations in the gene are associated with succinic semialdehyde dehydrogenase deficiency.;

GenBank Accession Number : L34820;

Details

Origin ID

C214467;

OMIM relation
- Aldehyde dehydrogenase 5 family, member a1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p22.3 [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Butanoate Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Nervous System Development [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients