| Name | collagen, type IV, alpha 4 |
| Symbol | COL4A4 |
| Aliases | CA44; Collagen IV, alpha-4 polypeptide; collagen of basement membrane, alpha-4 chain |
| Gene Product | - alpha 4 type IV collagen precursor
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| Category | |
| UniGene |
Hs.282938
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | This gene encodes 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. |
| Gene Ontology | |
| Expression | | EST (38 ESTs, 24 libraries) |
| Tissue | Breadth ? |
CPM ? |
| blood |  | | | brain | | | | eye | | | | kidney |  | | | liver | | | | lung | | | | lymph node | | | | muscle | | | | pancreas | | | | stomach | | | | testis | | | | uncharacterized tissue | | |
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| SAGE (472890 tags, 8 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain | | | | colon | | | | eye | | | | ovary | | | | pancreas | | | | prostate | | | | uncharacterized tissue | | |
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| Evidence | Mutation in Other
Mutation in System Syndrom with Kidney Involvment
- Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A Identification of a new mutation in the alpha4(IV) collagen gene in afamily with autosomal dominant Alport syndrome and hypercholesterolaemia. Nephrol Dial Transplant 2001 Oct;16(10):2008-12.
- Buzza M, Wang YY, Dagher H, Babon JJ, Cotton RG, Powell H, Dowling J, Savige J COL4A4 mutation in thin basement membrane disease previously described inAlport syndrome. Kidney Int 2001 Aug;60(2):480-3.
- Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP, Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP Autosomal dominant Alport syndrome linked to the type IV collage alpha 3and alpha 4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant 1997 Aug;12(8):1595-9.
Other key publications related to this gene
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