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COL4A6

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.
Protein class

Disease related genes, Human disease related genes

Predicted location

Secreted

Single cell type specificity

Cell type enhanced (Basal prostatic cells, Basal respiratory cells, Urothelial cells, Cardiomyocytes, Prostatic glandular cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HBEC3-KT, HeLa, HHSteC, hTERT-HME1, HUVEC TERT2, TIME)

Interaction

There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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