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 …

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 …

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 …

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 …

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 …

Large deletions involving the adjacent COL4A5 and COL4A6 genes are reported to cause diffuse leiomyomatosis . Here, we review emerging developments regarding the biology and …

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 …

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 …

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 …