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Article

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

The Journal of biological chemistry - 1 May 2022

Li Chaoyi, Chen Qian, Wu Junjiao, Ren Jie, Zhang Mengfei, Wang Huakun, Li Jinchen, Tang Yu

Abstract excerpt

Oculocutaneous albinism type 1 (OCA1), resulting from pathogenic variants in the tyrosinase (TYR) gene, refers to a group of phenotypically heterogeneous autosomal recessive disorders characterized by a partial or a complete absence of pigment in the skin/hair and is also associated with common developmental eye defects. In this study, we identified two novel compound heterozygous TYR variants from a Chinese...

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Identifiers

PMID: 35413289
DOI: 10.1016/j.jbc.2022.101922
PMCID: PMC9108984

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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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Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.PMID 35413289Read ↗

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