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.

Collagen alpha-6 (IV) chain is a protein that in humans is encoded by the COL4A6 gene. [5][6] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes.

它由六个不同的基因编码： IV型胶原蛋白 α1 (COL4A1)、 COL4A2 、 COL4A3 、 COL4A4 、 COL4A5 和 COL4A6。 1.临床意义. IV型胶原蛋白可维持细胞分裂和生长。 胶原蛋白分泌异常会影响基底膜的形成。 IV型胶原蛋白α1 (COL4A1)基因在胃癌中过表达。 COL4A1的突变会导致成人和儿童脑出血。 COL4A1和COL4A2突变可导致脑血管疾病。 靶向胶原蛋白IVα3链的致病性自身抗体会引起组织损伤，导致自身免疫性疾病综合症的发生。 COL4A5基因突变与眼-耳-肾综合征有 …

该基因编码 IV 型胶原蛋白的六个亚基之一，IV 型胶原蛋白是基底膜的主要结构成分。 与 IV 型胶原蛋白基因家族的其他成员一样，该基因与另一种 IV 型胶原蛋白基因 alpha 5 IV 型胶原蛋白以头对头的构象组织在一起，因此该基因对共享一个共同的启动子。 延伸到 alpha 6 基因的 alpha 5 基因缺失会导致弥漫性平滑肌瘤病，伴随由 alpha 5 基因缺失引起的 X 连锁 Alport 综合征。 可变剪接导致编码不同异构体的多个转录变体。 [RefSeq 提供，2013 年 12 月]

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.

COL4A6 is associated with X-linked nonsyndromic hearing loss. We showed that TPM2, CLU, and COL4A6 mRNA levels are downregulated in prostate cancer. In this paper we improve the definition of the COL4A5/COL4A6 deletions in three Alport syndrome with diffuse leiomyomatosis.

2024年4月3日 · Clinical resource with information about COL4A6, Hearing loss, X-linked 6, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Gene ID: 94216, updated on 8-Feb-2025. An extracellular matrix structural constituent. Acts upstream of or within cellular response to amino acid stimulus; collagen-activated tyrosine kinase receptor signaling pathway; and extracellular matrix organization. Located in basement membrane. Part of collagen type IV trimer.

Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis. Alport syndrome with diffuse leiomyomatosis. American journal of medical genetics. Part A. The consensus coding sequences of human breast and …

col4a6 Collagen alpha-6is a protein in humans that is encoded by COL4A6 gene. 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.