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COL4A6鎶椾綋
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浜у搧浠嬬粛
闈舵爣锛欬p style="text-indent: 2em;">COL4A6
浜у搧鍒悕锛欬p style="text-indent: 2em;">CXDELq22.3锛 DELXq22.3锛 DFNX6锛 COL4A6锛 collagen type IV alpha 6 chain锛 collagen type IV alpha 6 chain锛 collagen alpha-6(IV) chain锛 collagen IV, alpha-6 polypeptide锛 collagen of basement membrane, alpha-6锛 collagen, type IV, alpha 6锛 dJ889N15.4 (Collagen Alpha 6(IV))锛 鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013], 瀹夸富锛歊bt |
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