TYRP1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TYRP1 (HGNC:12450) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tyrosinase related protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TYRP, CAS2
Alias symbols
GP75, CATB, TRP, b-PROTEIN, OCA3
%HI
21.84(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.4(Read more about gnomAD LOEUF score)
Cytoband
9p23
Genomic Coordinates
GRCh37/hg19: chr9:12693385-12710285 NCBI Ensembl UCSC
GRCh38/hg38: chr9:12693385-12710285 NCBI Ensembl UCSC
MANE Select Transcript
NM_000550.3 ENST00000388918.10 (Read more about MANE Select)
Function
Plays a role in melanin biosynthesis (PubMed:22556244, PubMed:16704458, PubMed:23504663). Catalyzes the oxidation of 5,6- dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2- carboxylic acid in the presence of bound Cu(2+) ions, but not in the presence of Zn(2+) (PubMed:28661582). May regulate or influence the type of melanin synthesized (PubMed:22556244, PubMed:16704458). Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity). {ECO:000025... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29977
ClinGen Curation ID:
CCID:008074
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • oculocutaneous albinism type 3 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)