2024年12月24日 · COL4A6 (Collagen Type IV Alpha 6 Chain) is a Protein Coding gene. Diseases associated with COL4A6 include Deafness, X-Linked 6 and Rare X-Linked Non-Syndromic Sensorineural Deafness Type Dfn. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

2023年10月17日 · The COL4A6 gene encodes the collagen type IV alpha-6 isoform, which is a component of the basement membrane. Basement membranes compartmentalize tissues and provide important signals for the differentiation of the cells they support.

We provide a first indication that highly specialized patterns characteristic of COL4A5-COL4A6 expression in vivo arise from effects of distributed cis-acting regulatory elements on a bidirectional proximal promoter, itself transcriptionally competent.

2016年7月5日 · COL4A6 is located on the X chromosome in a head-to-head manner with COL4A5 closely 25. Although the deletion of both COL4A5 and COL4A6 is known to cause AS with diffuse leiomyomatosis 26, 27, no study has so far found that a COL4A6 mutation alone causes hereditary nephropathy.

2024年3月5日 · Title: Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. We showed that TPM2, CLU, and COL4A6 mRNA levels are downregulated in prostate cancer.

Large deletions involving the adjacent COL4A5 and COL4A6 genes are reported to cause diffuse leiomyomatosis . Here, we review emerging developments regarding the biology and pathogenic mechanisms underlying COL4A1- and COL4A2-associated diseases.

While a COL4A6 variant has been reported in a single Hungarian family with NSHL associated with inner ear malformation, causative role of COL4A6 variants and their phenotypic consequences in NSHL remain elusive. Here we report two families in which we identified a male member with X-linked HL.

The type IV collagen alpha chain (COL4A) family is a major component of BM that may be involved in tumor angiogenesis and progression. COL4A family constitutes of six genetically different alpha chains, α1(IV) to α6(IV), also known as COL4A1 to COL4A6 . COL4A1 and COL4A2 are ubiquitous, whereas COL4A3 to COL4A6 are tissue-specific

lovd: col4a6 Diseases List Disease-causing germline mutation(s) in Rare X-linked non-syndromic sensorineural deafness type DFN ORPHA:90625

2021年4月12日 · While a COL4A6 variant has been reported in a single Hungarian family with NSHL associated with inner ear malformation, causative role of COL4A6 variants and their phenotypic consequences in NSHL...