TYR tyrosinase
Gene ID: 7299, updated on 17-Jun-2024Gene type: protein coding
Also known as: ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3
- See all available tests in GTR for this gene
- Go to complete Gene record for TYR
- Go to Variation Viewer for TYR variants
Summary
The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genomewide association study of skin pigmentation in a South Asian population. GeneReviews: Not available | |
| Genetic determinants of hair, eye and skin pigmentation in Europeans. GeneReviews: Not available | |
| Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. GeneReviews: Not available | |
| Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. GeneReviews: Not available | |
| Genome-wide association study identifies three loci associated with melanoma risk. GeneReviews: Not available | |
| Genome-wide association study identifies three new melanoma susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study of tanning phenotype in a population of European ancestry. GeneReviews: Not available | |
| Identification of a melanoma susceptibility locus and somatic mutation in TET2. GeneReviews: Not available | |
| Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. GeneReviews: Not available | |
| Oculocutaneous albinism type 1B | See labs |
| SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | See labs |
| Tyrosinase-negative oculocutaneous albinism | See labs |
| Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. GeneReviews: Not available | |
| Web-based, participant-driven studies yield novel genetic associations for common traits. GeneReviews: Not available |
Genomic context
- Location:
- 11q14.3
- Sequence:
- Chromosome: 11; NC_000011.10 (89177875..89295759)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TYR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.