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.

2001年8月28日 · 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.

2025年3月28日 · 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 .

We identified a novel hemizygous single nucleotide deletion c.1902delA in COL4A5 gene. Even with an expanded gene panel, we find that COL4A disorders are the leading monogenic cause in adults diagnosed with FSGS.

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.

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 …

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).

2024年12月10日 · 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.

Since a huge number of individual mutations have been described in the COL4A5 gene, it is of importance to elucidate the possible link between the COL4A5 mutation and clinical presentation of the disease.