AlphaFold predicted structure
TYR · P14679
Mean pLDDT
89.9/ 100
Confident
529 residues
Confidence breakdown
- Very high(≥ 90)82%
- Confident(70–90)8%
- Low(50–70)3%
- Very low(< 50)8%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
TYR
Chr 11q14.3tyrosinase
- Aliases:
- OCAIA, OCA1A, OCA1
- MANE:
- ENST00000263321.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalInfantile nystagmus
BIALLELIC, autosomal or pseudoautosomalOcular and oculo-cutaneous albinism
BIALLELIC, autosomal or pseudoautosomalPigmentary skin disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
oculocutaneous albinism type 1A
0.86oculocutaneous albinism type 1B
0.82oculocutaneous albinism type 1
0.74Abnormality of skin pigmentation
0.68oculocutaneous albinism
0.67Ocular albinism with congenital sensorineural deafness
0.66oculocutaneous albinism type 6
0.60vitiligo
0.60temperature-sensitive oculocutaneous albinism type 1
0.58melanoma
0.56
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Tyrosinase
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity). In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582)
Diseases associated with TYR
Curated MONDO disease pages that list TYR among their top associated genes.