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COL4A6 / Collagen IV is 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.
Gene Name: | Collagen, Type IV, Alpha 6 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL4A6, Collagen, type IV, alpha 6, Collagen alpha 6 type IV, Collagen alpha 6(iv), Collagen alpha-6(IV) chain, CXDELq22.3, DELXq22.3 |
Target Sequences: | NM_001847 NP_001838.2 Q14031 |
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