Alport syndrome (mutation in alpha chain of collagen 4)

Channel: USMLEFastTrack   |   2013/06/05
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From Wikipedia, the free encyclopedia
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Collagen, type IV, alpha 3 (Goodpasture antigen)
Identifiers
Symbol COL4A3
External IDs OMIM120070 MGI104688 HomoloGene68033 GeneCards: COL4A3 Gene
RNA expression pattern
PBB GE COL4A3 214641 at tn.png
PBB GE COL4A3 216893 s at tn.png
PBB GE COL4A3 222073 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1285 12828
Ensembl ENSG00000169031 ENSMUSG00000079465
UniProt Q01955 Q9QZS0
RefSeq (mRNA) NM_000091 NM_007734
RefSeq (protein) NP_000082 NP_031760
Location (UCSC) Chr 2:
228.03 – 228.18 Mb
Chr 1:
82.59 – 82.72 Mb
PubMed search [1] [2]

Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene.[1][2]

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 Goodpasture's 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.[2]

Disease Database[edit]

LOVD Alport gene variant databases (COL4A3, COL4A4, COL4A5)

References[edit]

Further reading[edit]


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