COL4A4

COL4A4 (Collagen Type IV Alpha 4 Chain) is a Protein Coding gene. Diseases associated with COL4A4 include Alport Syndrome, Autosomal Recessive and Hematuria, Benign Familial. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL4A6.

Collagen Type IV Alpha 4 Chain

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.

Collagen fibril organization Source: Reactome
Extracellular matrix organization Source: GO_Central
Glomerular basement membrane development Source: UniProtKB

Basement membrane. Colocalizes with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL).

Alport syndrome 2, autosomal recessive (ATS2):
A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.
Hematuria, benign familial (BFH):
An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane.

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.
The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.