COL4A1-Related Disorders - GeneReviews® - NCBI Bookshelf
2009年6月25日 · The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and ...
COL4A1/A2-Related Disorders - Symptoms, Causes, Treatment
2023年11月1日 · COL4A1/A2-related disorders are caused by changes (variants or mutations) in the COL4A1 or COL4A2 genes. These genes are the blueprints for two proteins that wind together like a long rope inside cells. When these ‘ropes’ are secreted, they assemble into net-like structures outside the cells.
COL4A1 Gene - GeneCards | CO4A1 Protein | CO4A1 Antibody
2024年12月9日 · COL4A1 (Collagen Type IV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL4A1 include Retinal Arteries, Tortuosity Of and Brain Small Vessel Disease 1 With Or Without Ocular Anomalies .
COL4A1 gene - MedlinePlus
The COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Specifically, this gene makes the alpha1(IV) chain of type IV collagen.
Collagen, type IV, alpha 1 - Wikipedia
Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the COL4A1 gene on chromosome 13. [5] [6] It is ubiquitously expressed in many tissues and cell types. [7] COL4A1 is a subunit of the type IV collagen and plays a role in angiogenesis. [8]
COL4A1-related brain small-vessel disease - MedlinePlus
The COL4A1 gene mutations that cause COL4A1-related brain small-vessel disease result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes.
COL4A1 collagen type IV alpha 1 chain [ (human)] - National …
COL4A1 mutations have been identified in adult patients with cerebral small vessel diseases. COL4A1 mutations are associated with schizencephaly and hemolytic anemia; genetic testing for COL4A1 should be considered for children with these conditions.
COL4A1 -Related Disorders - PubMed
2016年7月7日 · Clinical characteristics: The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon ...
COL4A1 collagen type IV alpha 1 chain [ Homo sapiens (human…
2024年11月27日 · Title: Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology. The ETS1-LINC00278 negative feedback loop plays a role in COL4A1/COL4A2 regulation in laryngeal squamous cell carcinoma.
American Journal of Medical Genetics Part A
4 天之前 · The alpha 1 and 2 chains of type IV collagen, encoded by the COL4A1 (MIM 120130) and COL4A2 (MIM 120090) respectively, play essential roles in the vascular basement membranes. Pathogenic variants in COL4A1/ COL4A2 are associated with autosomal dominant cerebral angiopathies. The clinical manifestations of COL4A1/COL4A2-related disorders …