TYR wt Allele - CISMeF

Preferred Label : TYR wt Allele;

NCIt synonyms : OCAIA; OCA1A; Tyrosinase wt Allele; ATN; OCA1; SHEP3; Tyrosinase (Oculocutaneous Albinism IA) Gene; CMM8;

NCIt definition : Human TYR wild-type allele is located within 11q14-q21 and is approximately 118 kb in length. This allele, which encodes tyrosinase protein, plays a role in the multi-step biosynthesis of melanin from tyrosine. Allelic variants of the TYR gene cause three different types of oculocutaneous albinism.;

NCIt note : The three types of oculocutaneous albinism caused by tyrosinase deficiency are termed type IA (tyrosinase-negative), type IB (reduced tyrosinase activity) and type I temperature-sensitive.;

GenBank Accession Number : NM_000372;

Details

Origin ID

C50946;

UMLS CUI

C1710338;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type ia [OMIM Phenotype]
- Melanoma, cutaneous malignant, susceptibility to, 8 [OMIM Phenotype]
- Oculocutaneous albinism type 1 [ORDO Disease]
- Oculocutaneous albinism type 1 [MeSH concept]
- Oculocutaneous albinism type 1A [ORDO Disease]
- Skin/hair/eye pigmentation, variation in, 3 [OMIM Phenotype]
- Tyrosinase-negative oculocutaneous albinism (disorder) [SNOMED CT concept]
- neural tube defects [MeSH Descriptor]
- oculocutaneous albinism type 1 [MeSH Supplementary Concept]
- oculocutaneous albinism type IA [DO Concept]
- tyrosinase [ORDO Gene]
OMIM relation
- Tyrosinase [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_in_chromosomal_location
- 11q14-q21 [NCIt concept]
gene_is_element_in_pathway
- Melanogenesis Pathway [NCIt concept]
- Riboflavin Metabolism Pathway [NCIt concept]
- Tyrosine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Melanogenesis [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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