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Ovarian Kaleidoscope Database (OKdb)

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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
Comment
Cellular localization
Comment
Ovarian function
Comment
Expression regulated by
Comment
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
Comment
Phenotypes
Mutations 0 mutations
SNPs
D E M O
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OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: June 20, 2006, 11:15 a.m. by: Alex   email:
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last update: June 20, 2006, 11:15 a.m. by: Alex    email:



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