TYRP1

Chr 9AR

tyrosinase related protein 1

Also known as: CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP, b-PROTEIN

NCBI Gene: 7306ENSG00000107165UniProt: P17643OMIM: 115501

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]MIM #612271
AR
Albinism, oculocutaneous, type IIIMIM #203290
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
109
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.000
Z-score -2.04
OE 1.48 (1.11–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.15Z-score
OE missense 1.35 (1.24–1.47)
404 obs / 299.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.48 (1.11–1.89)
0≤0.351.4
Missense OE?1.35 (1.24–1.47)
0≤0.61.4
Synonymous OE?1.27
0≤1.21.6
LoF obs/exp: 31 / 20.9Missense obs/exp: 404 / 299.5Syn Z: -2.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TYRP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients