RecName: Full=P protein; AltName: Full=Melanocyte-specific transporter - Protein

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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.
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. [Pigment Cell Melanoma Res. 2024]
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Michaud V, Sequeira A, Mercier E, Lasseaux E, Plaisant C, Hadj-Rabia S, Whalen S, Bonneau D, Dieux-Coeslier A, Morice-Picard F, et al. Pigment Cell Melanoma Res. 2024 Sep; 37(5):534-545. Epub 2023 Aug 31.
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.

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

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Q04671 [Domain Mapping of Disease Mut...]
Q04671
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
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Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein