ALDH4A1 wt Allele

Preferred Label : ALDH4A1 wt Allele;

NCIt synonyms : Aldehyde Dehydrogenase 4 Family, Member A1 Gene; Aldehyde Dehydrogenase 4 Family Member A1 wt Allele; P5CDH; ALDH4; P5CD;

NCIt definition : Human ALDH4A1 wild-type allele is located in the vicinity of 1p36.13 and is approximately 31 kb in length. This allele, which encodes delta-1-pyrroline-5-carboxylate dehydrogenase protein, mitochondrial, plays a role in glutamate synthesis. Mutation of the gene is associated with type II hyperprolinemia.;

NCI Metathesaurus CUI : CL553379;

GenBank Accession Number : U24266;

Details

Origin ID

C152044;

UMLS CUI

C4724049;

Automatic exact mappings (from CISMeF team)
- Aldehyde dehydrogenase, family 4, subfamily a, member 1 [OMIM gene]
- aldehyde dehydrogenase 4 family member A1 [ORDO Gene]
OMIM relation
- Aldehyde dehydrogenase, family 4, subfamily a, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Arginine and Proline Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Intermediary Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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