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Article

Computational screening of disease-associated mutations in OCA2 gene.

Cell biochemistry and biophysics - 1 Jan 2014

Kamaraj Balu, Purohit Rituraj

Abstract excerpt

Oculocutaneous albinism type 2 (OCA2), caused by mutations of OCA2 gene, is an autosomal recessive disorder characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eyes. The OCA2 gene encodes instructions for making a protein called the P protein. This protein plays a cruc...

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Identifiers

PMID: 23824587
DOI: 10.1007/s12013-013-9697-2

Genes

OCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23824587-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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