NP_001274689.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
163,807 Da
NCBI Official Full Name
collagen alpha-6(IV) chain isoform 5
NCBI Official Synonym Full Names
collagen, type IV, alpha 6
NCBI Protein Information
collagen alpha-6(IV) chain; collagen alpha-6(IV) chain; collagen IV, alpha-6 polypeptide; dJ889N15.4 (Collagen Alpha 6(IV)); collagen of basement membrane, alpha-6
UniProt Protein Name
Collagen alpha-6(IV) chain
UniProt Entry Name
CO4A6_HUMAN
NCBI Summary for 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]
UniProt Comments for COL4A6
COL4A6: 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. 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: Secreted; Extracellular matrix; Secreted, signal peptide
Chromosomal Location of Human Ortholog: Xq22
Cellular Component: endoplasmic reticulum lumen; collagen type IV; extracellular region
Molecular Function: extracellular matrix structural constituent
Biological Process: collagen catabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; cell adhesion
Disease: Deafness, X-linked 6
Research Articles on COL4A6
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Pathways associated with COL4A6 elisa kit
Diseases associated with COL4A6 elisa kit
Organs/Tissues associated with COL4A6 elisa kit
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