Aug 28, 2001 · The molecular diagnosis of Alport syndrome is established in a proband with suggestive findings and a pathogenic variant (s) in COL4A3, COL4A4, or COL4A5 identified by molecular genetic testing.

Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene. This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes.

Mar 28, 2025 · COL4A5 (Collagen Type IV Alpha 5 Chain) is a Protein Coding gene. Diseases associated with COL4A5 include Alport Syndrome 1, X-Linked and X-Linked Alport Syndrome . Among its related pathways are Collagen chain trimerization and Integrin Pathway .

The COL4A5 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha5 (IV) chain of collagen IV. This chain combines with two other types of alpha (IV) chains (the alpha3 and alpha4 chains) to …

COL4A5 encodes an alpha chain of type IV collagen, the major component of basement membranes (Hostikka et al., 1990). Hostikka et al. (1990) identified a distinct type IV collagen alpha chain, which they referred to as alpha-5.

Alport syndrome is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular defects. The primary abnormality arises from mutations in genes encoding the type IV collagen protein family.

Feb 8, 2025 · Title: Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome. Type IV collagen alpha5 chain promotes luminal breast cancer progression through c-Myc-driven glycolysis.

Alport syndrome (AS) is an inherited progressive nephropathy caused by mutations in one or two of the type IV collagen novel chains (α3, α4 and α5), which are encoded by COL4A3, COL4A4 and COL4A5, respectively.

We identified 11 pathogenic variants in the type IV collagen genes (COL4A3, COL4A4 and COL4A5). These pathogenic variants include eight missense mutations, two nonsense mutations and one frameshift mutation. Notably, Family 2 had digenic mutations in the COL4A3 (p.G1170A) and UMOD genes (p.M229K).

Dec 10, 2024 · Clinical resource with information about COL4A5, Alport syndrome, X-linked Alport syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.