TYRP1 tyrosinase related protein 1
Gene ID: 7306, updated on 28-Oct-2024Gene type: protein coding
Also known as: TRP; CAS2; CATB; GP75; OCA3; TRP1; TYRP; b-PROTEIN
- See all available tests in GTR for this gene
- Go to complete Gene record for TYRP1
- Go to Variation Viewer for TYRP1 variants
Summary
This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 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 combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. GeneReviews: Not available | |
| Melanesian blond hair is caused by an amino acid change in TYRP1. GeneReviews: Not available | |
| Oculocutaneous albinism type 3 | See labs |
| Skin/hair/eye pigmentation, variation in, 11 | See labs |
| Two newly identified genetic determinants of pigmentation in Europeans. GeneReviews: Not available |
Genomic context
- Location:
- 9p23
- Sequence:
- Chromosome: 9; NC_000009.12 (12693385..12710285)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TYRP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Albinism Database Mutations of the tyrosinase related protein-1 gene
- 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
- TYRP1 database
- Variation ViewerRelated Variants
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