Entity Details

Primary name TYR
Entity type gene
Source Source Link

Details

PrimaryID7299
RefseqGeneNG_008748
SymbolTYR
Nametyrosinase
Chromosome11
Location11q14.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTYRO_HUMAN

GO terms

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GOName
GO:0004503 monophenol monooxygenase activity
GO:0005507 copper ion binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005798 Golgi-associated vesicle
GO:0005829 cytosol
GO:0006583 melanin biosynthetic process from tyrosine
GO:0006726 eye pigment biosynthetic process
GO:0007601 visual perception
GO:0008283 cell population proliferation
GO:0009411 response to UV
GO:0009637 response to blue light
GO:0016021 integral component of membrane
GO:0033162 melanosome membrane
GO:0033280 response to vitamin D
GO:0042438 melanin biosynthetic process
GO:0042470 melanosome
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043231 intracellular membrane-bounded organelle
GO:0043473 pigmentation
GO:0048471 perinuclear region of cytoplasm
GO:0048538 thymus development
GO:0051591 response to cAMP

Diseases

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Disease IDSourceNameDescription
203100 OMIMAlbinism, oculocutaneous, 1A (OCA1A)An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia. The disease is caused by variants affecting the gene represented in this entry.
606952 OMIMAlbinism, oculocutaneous, 1B (OCA1B)An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C. The disease is caused by variants affecting the gene represented in this entry.
103470 OMIMWaardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA)A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.

Interactions

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