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COL4A3

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Official Full Name
collagen, type IV, alpha 3 (Goodpasture antigen)
Background
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. 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.
Synonyms
COL4A3; collagen, type IV, alpha 3 (Goodpasture antigen); collagen alpha-3(IV) chain; tumstatin; collagen IV, alpha-3 polypeptide
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COL4A3 Related Articles
>> Yao, XD; Chen, X; et al. Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis. ORPHANET JOURNAL OF RARE DISEASES 7:-(2012).
>> Abrahamson, DR; Hudson, BG; et al. Cellular Origins of Type IV Collagen Networks in Developing Glomeruli. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 20:1471-1479(2009).

45-1 Ramsey Road, Shirley, NY 11967, USA
USA: 1-631-559-9269  1-631-448-7888
Europe: 44-207-048-3343
FAX: 1-631-938-8127
EMAIL: info@creative-biomart.com

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