HCCS wt Allele

Preferred Label : HCCS wt Allele;

NCIt synonyms : CCHL; Holocytochrome C Synthase (Cytochrome C Heme-Lyase) wt Allele; DKFZp779I1858; MCOPS7;

NCIt definition : Human HCCS wild-type allele is located in the vicinity of Xp22.2 and is approximately 12 kb in length. This allele, which encodes holocytochrome c-type synthase protein, may play a role in electron transport. Mutations in the gene are associated with syndromic microphthalmia 7.;

GenBank Accession Number : NM_005333;

Détails

Origin ID

C75503;

UMLS CUI

C2697531;

False automatic mappings
- Microphthalmia with linear skin defects syndrome [ORDO Disease]
OMIM relation
- Holocytochrome C synthase [OMIM gene]
See also inter- (CISMeF)
- microphthalmia, syndromic 7 [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp22.2 [NCIt concept]
gene_is_element_in_pathway
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Organogenesis [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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