QuickView for Monophenol Monooxygenase (gene)

Gene Symbol:

TYR Homo sapiens

Full name:

tyrosinase

Synonyms:

ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3, tyrosinase, LB24-AB, SK29-AB, monophenol monooxygenase, oculocutaneous albinism IA, tumor rejection antigen AB

Genomic Location:

Chr 11: 88550688-88668575

Description:

The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in s...

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The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NFAT_Q4_01 ,  TGGAAA_NFAT_Q4_01 ,  FREAC7_01 ,  TCANNTGAY_SREBP1_01 ,  IRF1_Q6 ,  MYCMAX_02 ,  RGAANNTTC_HSF1_01 ,  HSF1_01 ,  LHX3_01 ,  NF1_Q6 ,  S8_01 ,  NF1_Q6_01 ,  HSF2_01 ,  TAATTA_CHX10_01 ,  YTAATTAA_LHX3_01 ,  USF_02 ,  OLF1_01

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Cytogenetic Map:

11q14.3

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