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Article

Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.

Progress in retinal and eye research - 1 Jul 2007

Ray Kunal, Chaki Moumita, Sengupta Mainak

Abstract excerpt

Tyrosinase (TYR) is a multifunctional copper-containing glycoenzyme (approximately 80 kDa), which plays a key role in the rate-limiting steps of the melanin biosynthetic pathway. This membrane-bound protein, possibly evolved by the fusion of two different copper-binding proteins, is mainly expressed in epidermal, ocular and follicular melanocytes. In the melanocytes, TYR functions as an integrated unit with other...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17355913
DOI: 10.1016/j.preteyeres.2007.01.001

Genes

TYR
LAMP1
TYRP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.PMID 17355913Read ↗

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.Semantic proximity Read ↗

Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.Semantic proximity Read ↗

Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.Semantic proximity Read ↗

Identification of TYR mutations in patients with oculocutaneous albinism.Semantic proximity Read ↗

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.Semantic proximity Read ↗

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).Semantic proximity Read ↗

Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1.Semantic proximity Read ↗

[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].Semantic proximity Read ↗

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.Semantic proximity Read ↗

Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.Semantic proximity Read ↗

Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).Semantic proximity Read ↗

Tyrp1 and oculocutaneous albinism type 3.Semantic proximity Read ↗

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