Products

Western Blot (Transfected lysate)

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

COL4A3

Gene Alias

-

Gene Description

collagen, type IV, alpha 3 (Goodpasture antigen)

Omim ID

Gene Ontology

Gene Summary

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. There are multiple alternate transcripts that appear to be unique to this human alpha 3 gene and alternate splicing is restricted to the six exons that encode this C-terminal domain. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. 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 so that each gene pair shares a common promoter. Some exons of this gene are interspersed with exons of an uncharacterized gene which is on the opposite strand. [provided by RefSeq

Other Designations

Goodpasture antigen|OTTHUMP00000195044|alpha 3 type IV collagen|alpha3 type IV collagen|collagen IV, alpha-3 polypeptide|tumstatin