Collagen Type IV Alpha 4 (COL4a4)

COL4-A4; CA44; Collagen Alpha-4(IV)chain; Collagen Of Basement Membrane,Alpha-4 Chain

SPN	U702
HGNC	2206
MGI	104687
PubMed	12631110
RGD	1305355
UniProt	P53420
Wiki	COL4A4

Collagen alpha-4(IV) chain is one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR.

Reference

"Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains."
J. Biol. Chem. 269:26172-26177(1994) [PubMed] [Europe PMC] [Abstract]

"Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome."
Am. J. Hum. Genet. 63:1329-1340(1998) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36."
FEBS Lett. 424:11-16(1998) [PubMed] [Europe PMC] [Abstract]

"cDNA isolation and partial gene structure of the human alpha 4(IV) collagen chain."
FEBS Lett. 330:122-128(1993) [PubMed] [Europe PMC] [Abstract]

"Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2."
J. Biol. Chem. 267:23753-23758(1992) [PubMed] [Europe PMC] [Abstract]

"Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues."
J. Biol. Chem. 269:23013-23017(1994) [PubMed] [Europe PMC] [Abstract]

"Quaternary organization of the goodpasture autoantigen, the alpha 3(IV) collagen chain. Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains."
J. Biol. Chem. 277:40075-40083(2002) [PubMed] [Europe PMC] [Abstract]

"The clinical spectrum of type IV collagen mutations."
Hum. Mutat. 9:477-499(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome."
Nat. Genet. 8:77-82(1994) [PubMed] [Europe PMC] [Abstract]

"Benign familial hematuria due to mutation of the type IV collagen alpha4 gene."
J. Clin. Invest. 98:1114-1118(1996) [PubMed] [Europe PMC] [Abstract]

"Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria."
J. Am. Soc. Nephrol. 13:1248-1254(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations in the COL4A4 gene in thin basement membrane disease."
Kidney Int. 63:447-453(2003) [PubMed] [Europe PMC] [Abstract]