NP_000486.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
collagen alpha-5(IV) chain isoform 1
NCBI Official Synonym Full Names
collagen type IV alpha 5 chain
NCBI Protein Information
collagen alpha-5(IV) chain
UniProt Protein Name
Collagen alpha-5(IV) chain
NCBI Summary for COL4a5
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
UniProt Comments for COL4a5
COL4A5: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Defects in COL4A5 are the cause of Alport syndrome X- linked (APSX). APSX is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS). Belongs to the type IV collagen family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Extracellular matrix; Motility/polarity/chemotaxis; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: Xq22.3
Cellular Component: basal lamina; collagen type IV; endoplasmic reticulum lumen; extracellular region; neuromuscular junction
Molecular Function: extracellular matrix structural constituent
Biological Process: collagen catabolic process; extracellular matrix organization; neuromuscular junction development
Disease: Alport Syndrome, X-linked
Research Articles on COL4a5
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Pathways associated with anti-COL4a5 antibody
Diseases associated with anti-COL4a5 antibody
Organs/Tissues associated with anti-COL4a5 antibody
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