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Tyrosinase structure
P14679
TYRO_HUMAN
TYR

Tyrosinase

酪氨酸酶

Homo sapiensTaxon: 9606

3D-structureAlbinismAlternative splicingCopperDeafnessDisease variantGlycoproteinMelanin biosynthesisMembraneMetal-bindingMonooxygenaseOxidoreductase+7
序列长度

529

氨基酸

分子量

60.4 kDa

理论值

实验结构

1

PDB 条目

相关疾病

2

已记录

功能描述

This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity). In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582)
这是一种含铜氧化酶，在黑色素和其他多酚化合物等色素的形成中发挥作用。 催化级联反应中的初始步骤和限速步骤，导致酪氨酸产生黑色素（通过相似性）。 除了将酪氨酸羟基化为 DOPA（3,4-二羟基苯丙氨酸）外，还催化 DOPA 氧化为 DOPA-醌，并可能催化 DHI（5,6-二羟基吲哚）氧化为吲哚 5,6 醌 (PubMed:28661582)
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相关疾病

Albinism, oculocutaneous, 1A

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.

Albinism, oculocutaneous, 1B

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.

氨基酸序列

MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILL
SNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVR
RNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMH
YYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRD

FASTA 格式 · 529 个氨基酸 · 分子量 60.4 kDa