HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TYRP1
tyrosinase related protein 1
Chromosome 9 Β· 9p23
NCBI Gene: 7306Ensembl: ENSG00000107165.13HGNC: HGNC:12450UniProt: P17643
101PubMed Papers
21Diseases
1Drugs
91Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
Early PipelineOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endosome membranecytoplasmprotein bindingintracellular vesicleoculocutaneous albinism type 3oculocutaneous albinismoculocutaneous albinism type 6Abnormality of skin pigmentation
✦AI Summary

TYRP1 encodes tyrosinase-related protein 1, which serves a crucial role in melanin biosynthesis within melanocytes 1. The protein functions as an enzyme that catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) to indole-5,6-quinone-2-carboxylic acid in the presence of copper ions, contributing specifically to eumelanin synthesis 2. Beyond its enzymatic function, TYRP1 helps maintain tyrosinase protein stability, modulates its catalytic activity, and is involved in melanosome ultrastructure maintenance 2. The protein also affects melanocyte proliferation and cell death processes 2. Disease-wise, TYRP1 mutations cause oculocutaneous albinism type 3 (OCA3), characterized by reduced pigmentation in hair, skin, and eyes, along with characteristic ocular abnormalities including nystagmus, photophobia, and reduced visual acuity 3. Interestingly, TYRP1 exhibits population-specific mutation patterns, with apparent pathological TYRP1 mutations being rare in Chinese OCA patients compared to other populations 4. Additionally, TYRP1 serves as a melanoma differentiation antigen, making it a potential therapeutic target for CAR T cell therapy in melanoma treatment 5, and shows differential expression patterns in uveal melanoma cell lines 6.

Sources cited
1
TYRP1 plays a role in melanin biosynthesis
PMID: 23504663
2
TYRP1 functions as DHICA oxidase in eumelanin synthesis and maintains tyrosinase stability
PMID: 11775055
3
TYRP1 mutations cause oculocutaneous albinism type 3 with characteristic clinical manifestations
PMID: 17980020
4
TYRP1 mutations show population-specific patterns with rarity in Chinese patients
PMID: 19865097
5
TYRP1 serves as a melanoma differentiation antigen for CAR T cell therapy
PMID: 39308793
6
TYRP1 shows differential expression in uveal melanoma cell lines
PMID: 27073483
Disease Associationsβ“˜21
oculocutaneous albinism type 3Open Targets
0.80Strong
oculocutaneous albinismOpen Targets
0.66Moderate
oculocutaneous albinism type 6Open Targets
0.54Moderate
Abnormality of skin pigmentationOpen Targets
0.54Moderate
hair colorOpen Targets
0.50Moderate
actinic keratosisOpen Targets
0.49Moderate
eye colorOpen Targets
0.49Moderate
skin cancerOpen Targets
0.49Moderate
cutaneous melanomaOpen Targets
0.48Moderate
skin diseaseOpen Targets
0.42Moderate
albinismOpen Targets
0.40Moderate
basal cell carcinomaOpen Targets
0.39Weak
squamous cell carcinomaOpen Targets
0.34Weak
ocular albinismOpen Targets
0.33Weak
skin neoplasmOpen Targets
0.31Weak
suntanOpen Targets
0.31Weak
Abnormality of refractionOpen Targets
0.30Weak
diverticular diseaseOpen Targets
0.28Weak
bronchial diseaseOpen Targets
0.24Weak
oculocutaneous albinism type 2Open Targets
0.20Weak
Albinism, oculocutaneous, 3UniProt
Pathogenic Variants91
NM_000550.3(TYRP1):c.1261+1G>APathogenic
Oculocutaneous albinism type 3|Albinism|not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β˜…β˜…β˜†β˜†2026
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)Pathogenic
Oculocutaneous albinism type 3|Albinism|not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β˜…β˜…β˜†β˜†2026β†’ Residue 368
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)Pathogenic
Oculocutaneous albinism type 3|not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR|TYRP1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 353
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter)Pathogenic
not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR|Oculocutaneous albinism type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 117
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)Pathogenic
Oculocutaneous albinism type 3|ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF|not provided|TYRP1-related disorder|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β˜…β˜…β˜†β˜†2025β†’ Residue 166
NM_000550.3(TYRP1):c.782_793del (p.Cys261_Asp264del)Pathogenic
not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β˜…β˜…β˜†β˜†2025β†’ Residue 261
NM_000550.3(TYRP1):c.418G>T (p.Glu140Ter)Pathogenic
not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR|TYRP1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 140
NM_000550.3(TYRP1):c.721G>T (p.Glu241Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 241
NM_000550.3(TYRP1):c.1314C>A (p.Tyr438Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 438
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter)Pathogenic
Oculocutaneous albinism type 3|not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β˜…β˜…β˜†β˜†2024β†’ Residue 374
NM_000550.3(TYRP1):c.176C>G (p.Ser59Ter)Pathogenic
TYRP1-related disorder|not provided|MELANESIAN BLOND HAIR;Oculocutaneous albinism type 3
β˜…β˜…β˜†β˜†2024β†’ Residue 59
NM_000550.3(TYRP1):c.859C>T (p.Arg287Ter)Pathogenic
Oculocutaneous albinism type 3|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 287
NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)Likely pathogenic
Oculocutaneous albinism type 3|MELANESIAN BLOND HAIR;Oculocutaneous albinism type 3
β˜…β˜…β˜†β˜†2024β†’ Residue 30
NM_000550.3(TYRP1):c.570G>A (p.Trp190Ter)Pathogenic
not provided|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR
β˜…β˜…β˜†β˜†2024β†’ Residue 190
NM_000550.3(TYRP1):c.385+1G>CPathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_000550.3(TYRP1):c.913+2T>GPathogenic
not provided|Oculocutaneous albinism type 3
β˜…β˜…β˜†β˜†2023
NM_000550.3(TYRP1):c.421_425del (p.Lys141fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 141
NM_000550.3(TYRP1):c.1200del (p.Phe400fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 400
NM_000550.3(TYRP1):c.1166del (p.Gly389fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 389
NM_000550.3(TYRP1):c.195T>A (p.Cys65Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 65
View on ClinVar β†—
Drug Targets1
FLANVOTUMABPhase I
5,6-dihydroxyindole-2-carboxylic acid oxidase other
melanoma
Related Genes
HPS6Protein interaction100%HPS3Protein interaction100%CDK1Protein interaction92%SLC24A5Protein interaction91%MLANAProtein interaction90%MC1RProtein interaction90%
Tissue Expression6 tissues
Heart
100%
Brain
3%
Lung
3%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
TYRP1HPS6HPS3CDK1SLC24A5MLANAMC1R
PROTEIN STRUCTURE
Preparing viewer…
PDB5M8S Β· 2.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.40LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.12 [0.90–1.40]
RankingsWhere TYRP1 stands among ~20K protein-coding genes
  • #4,755of 20,598
    Most Researched101 Β· top quartile
  • #839of 5,498
    Most Pathogenic Variants91 Β· top quartile
  • #14,481of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedTYRP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Oculocutaneous albinism.
PMID: 17980020
Orphanet J Rare Dis Β· 2007
1.00
2
Human TYRP1: Two functions for a single gene?
PMID: 33305505
Pigment Cell Melanoma Res Β· 2021
0.90
3
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
PMID: 19865097
J Invest Dermatol Β· 2010
0.80
4
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
PMID: 23504663
Hum Mutat Β· 2013
0.70
5
Tyrp1 and oculocutaneous albinism type 3.
PMID: 11775055
Pigment Cell Res Β· 2001
0.60