TYRP1

Chr 9AR

tyrosinase related protein 1

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

NCBI Gene: 7306ENSG00000107165UniProt: P17643

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]

Primary Disease Associations & Inheritance

[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]MIM #612271
Albinism, oculocutaneous, type IIIMIM #203290
AR
0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
4
Active trials
Clinical Summary— TYRP1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
4 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-2.15Z-score
OE missense 1.35 (1.24–1.47)
404 obs / 299.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.48 (1.11–1.89)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.35 (1.24–1.47)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.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.

Gene2Phenotype Curations

TYRP1-related oculocutaneous albinism

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersEyeSkin
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]

MIM #612271

Molecular basis of disorder known

Albinism, oculocutaneous, type III

MIM #203290

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Oculocutaneous albinism.
Grønskov K et al.·Orphanet J Rare Dis
2007Review
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR et al.·Hum Mutat
2013Review
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
Zhong Z et al.·Pigment Cell Melanoma Res
2019Cohort
Ganoderma lucidum polysaccharide inhibits UVB-induced melanogenesis by antagonizing cAMP/PKA and ROS/MAPK signaling pathways.
Hu S et al.·J Cell Physiol
2019
Human TYRP1: Two functions for a single gene?
Gautron A et al.·Pigment Cell Melanoma Res
2021Review
Multi-omics analysis-based clinical and functional significance of a novel prognostic and immunotherapeutic gene signature derived from amino acid metabolism pathways in lung adenocarcinoma.
Xiang H et al.·Front Immunol
2024Functional
CAR-T cell therapy targeting surface expression of TYRP1 to treat cutaneous and rare melanoma subtypes.
Jilani S et al.·Nat Commun
2024
Expression and clinical significance of TYRP1, ABCB5, and MMP17 in sinonasal mucosal melanoma.
Tu J et al.·Cancer Biomark
2022
A phase I oncolytic virus trial with vesicular stomatitis virus expressing human interferon beta and tyrosinase related protein 1 administered intratumorally and intravenously in uveal melanoma: safety, efficacy, and T cell responses.
Smith KER et al.·Front Immunol
2023Clinical trial
Tyrosinase related protein 1 (TYRP1/gp75) in human cutaneous melanoma.
Ghanem G et al.·Mol Oncol
2011Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Laryngeal Carcinoma

The Relationship Between the Differential Expression of FosB Protein in Laryngeal Cancer Tissues and Clinical Prognosis

NOT YET RECRUITING
NCT06836765Yang jiStarted 2025-04-01
the expression negative in laryngeal cancer tissuethe expression positive in laryngeal cancer tissue
Colitis-associated Colorectal Cancer (CAC)

Screening for Hepatitis Virus B Protein X (HBx) in Colitis-associated Cancer (CAC)

NOT YET RECRUITING
NCT06833021IRCCS San RaffaeleStarted 2025-04-01
Transcriptomic AnalysisTranscriptomic Analysis
Fibromyalgia (FM)tDCSDuloxetine

Home-based Transcranial Direct Current Stimulation (tDCS) Compared to Duloxetine: Non-inferiority Clinical Trial (FIBROSTIM)

RECRUITING
NCT07203339Phase NAHospital de Clinicas de Porto AlegreStarted 2025-09-30
Transcranial direct current stimulation (tDCS) plus placebo.Duloxetine (60 mg) once dailyHome-based transcranial direct current stimulation
ScarsHypopigmented ScarHypopigmented Skin

Treatment of Hypopigmented Scars With Bimatoprost

RECRUITING
NCT06122090Phase PHASE2Medstar Health Research InstituteStarted 2023-07-18
BimatoprostSaline

External Resources

Links to major genomics databases and tools