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Article

Mutational analysis of TYR gene and its structural consequences in OCA1A.

Gene - 15 Jan 2013

K Balu, Purohit Rituraj

Abstract excerpt

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of albinism characterized by a complete lack of melanin production throughout life and is caused by mutations in the TYR gene. TYR gene codes tyrosinase protein to its relation with melanin formation by knowing the function of these SNPs. Based on the computational approaches, we have analyzed the genetic variations that could change the functional...

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Source

Identifiers

PMID: 23085273
DOI: 10.1016/j.gene.2012.09.128

Genes

TYR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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