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. [provided by RefSeq, Dec 2013]

Description

Collagen type IV alpha 6 chain

Tissue specificity

Tissue enhanced (endometrium , urinary bladder)

Subcell location

Endoplasmic reticulum

Predicted location

Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (108155607 - 108439497)

Ensembl ID

ENSG00000197565  (ver. 103.38)

Orthologs

Mouse Col4a6: ENSMUSG00000031273

UniProt

Q14031

neXtProt

NX_Q14031

Human splice variants
Mouse splice variants

Protein structure