Albinism, Ocular, Type I OKDB#: 3102
 Symbols: OA1 Species: human
 Synonyms: OA1,NETTLESHIP-FALLS TYPE OCULAR ALBINISM|OCULAR ALBINISM 1 GENE, INCLUDED, OA1 GENE, INCLUDED  Locus: Xp22.3 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment

NCBI Summary: Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes.
General function
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Cellular localization
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Ovarian function
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Expression regulated by
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Ovarian localization Oocyte
Comment The human cumulus-oocyte complex gene-expression profile. Assou S et al. BACKGROUND: The understanding of the mechanisms regulating human oocyte maturation is still rudimentary. We have identified transcripts differentially expressed between immature and mature oocytes and cumulus cells.
Follicle stages
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Phenotypes
Mutations
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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Beta
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created: 2006-06-20 11:15:23 by: Alex C Yee, hsuehlab   email: alex.c.yee@gmail.com
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last update: 2006-06-20 11:15:53 by: Alex C Yee, hsuehlab   email: alex.c.yee@gmail.com



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