| 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 |
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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. | ||||
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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. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | June 20, 2006, 11:15 a.m. | by: |
Alex email:
home page: |
| last update: | June 20, 2006, 11:15 a.m. | by: | Alex email: |
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