P protein isoform X27 [Homo sapiens]

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Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism. [Mol Genet Genomic Med. 2024]
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B, Zhang H, Kan Y, Gao X, Du Z, Liu Q. Mol Genet Genomic Med. 2024 Jan; 12(1):e2297. Epub 2023 Oct 26.
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus. [Hum Mutat. 2021]
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Loftus SK, Lundh L, Watkins-Chow DE, Baxter LL, Pairo-Castineira E, Nisc Comparative Sequencing Program, Jackson IJ, Oetting WS, Pavan WJ, Adams DR. Hum Mutat. 2021 Oct; 42(10):1239-1253. Epub 2021 Aug 1.
Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema. [Clin Exp Allergy. 2022]
Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema.
Margaritte-Jeannin P, Budu-Aggrey A, Ege M, Madore AM, Linhard C, Mohamdi H, von Mutius E, Granell R, Demenais F, Laprise C, et al. Clin Exp Allergy. 2022 Jan; 52(1):70-81. Epub 2021 Jul 3.

RefSeq genomic sequence
See the genomic reference sequence for the OCA2 gene (NG_009846.2).
RefSeq mRNA
See reference mRNA sequence for the OCA2 gene (XM_017022265.2).
RefSeq protein isoforms
See 59 reference sequence protein isoforms for the OCA2 gene.

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Protein