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Article

Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.

BMC medical genetics - 15 Mar 2017

Tóth Lola, Fábos Beáta, Farkas Katalin, Sulák Adrienn, Tripolszki Kornélia, Széll Márta, Nagy Nikoletta

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities. OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the solute carrier family 45, member 2 (SLC45A2) gene. This gene encodes a membrane-associated transport protein, which regulates tyrosinase activity and, thus, melanin content by changing...

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Identifiers

PMID: 28298193
DOI: 10.1186/s12881-017-0386-7
PMCID: PMC5353789

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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