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Ovarian Kaleidoscope Database (OKdb)

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collagen, type IV, alpha 6 OKDB#: 4671
 Symbols: COL4A6 Species: human
 Synonyms: DELXq22.3, CXDELq22.3, MGC88184,  Locus: Xq22 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: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]
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
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Follicle stages
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Phenotypes
Mutations 0 mutations
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Phenotypes and GWAS show phenotypes and GWAS
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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: April 27, 2012, 3:04 a.m. by: hsueh   email:
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last update: April 27, 2012, 3:04 a.m. by: hsueh    email:



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