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Article

Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.

The British journal of dermatology - 1 Dec 2016

Mondal M, Sengupta M, Ray K

Abstract excerpt

BACKGROUND: Oculocutaneous albinism type 1 (OCA1), caused by pathogenic variations in the tyrosinase gene (TYR), is the most frequent and severe form of hypopigmentary disorder worldwide. While OCA1A manifests as a complete loss of melanin pigment, patients with OCA1B show residual pigmentation of the skin, hair and eyes. Limited experimental evidence suggests retention of TYR in the endoplasmic reticulum (ER)...

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Source

Identifiers

PMID: 27537549
DOI: 10.1111/bjd.14977

Genes

TYR

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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Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.PMID 27537549Read ↗

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).Semantic proximity Read ↗

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

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