DEGS1 wt Allele

Preferred Label : DEGS1 wt Allele;

NCIt synonyms : DEGS-1; Des-1; DES1; DEGS; Degenerative Spermatocyte Homolog 1, Lipid Desaturase (Drosophila) Gene; FADS7; MLD; Delta(4)-Desaturase, Sphingolipid 1 Gene; Delta 4-Desaturase, Sphingolipid 1 wt Allele;

NCIt definition : Human DEGS1 wild-type allele is located within 1q41-q42.12 and is approximately 18 kb in length. This allele, which encodes sphingolipid delta(4)-desaturase DES1 protein, is involved in fatty acid biosynthesis.;

GenBank Accession Number : AF002668;

Details

Origin ID

C104176;

UMLS CUI

C3539688;

Automatic exact mappings (from CISMeF team)
- Delta(4)-desaturase, sphingolipid, 1 [OMIM gene]
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy [OMIM Phenotype]
- metachromatic leukodystrophy [DO Concept]
OMIM relation
- Delta(4)-desaturase, sphingolipid, 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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