COL4A1 : collagen type IV alpha 1 chain

Description

The COL4A1 (collagen type IV alpha 1 chain) is a protein-coding gene located on chromosome 13.

The COL4A1 gene provides instructions for making one part of type IV collagen, a flexible protein essential for the structure of many tissues. Specifically, this gene produces the alpha1(IV) chain of type IV collagen. This chain combines with another alpha1 chain and a different alpha (IV) chain called alpha2 to form a complete type IV collagen alpha1-1-2 molecule. Type IV collagen molecules link together to create complex protein networks. These networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in numerous tissues. Type IV collagen alpha1-1-2 networks play a significant role in basement membranes throughout the body, particularly those surrounding blood vessels. The type IV collagen network helps basement membranes interact with nearby cells, influencing cell movement, growth, division, maturation, and survival.

COL4A1 encodes a component of type IV collagen, which forms the structural basis of glomerular basement membranes (GBM). It interacts with other proteins like laminins, proteoglycans, and entactin/nidogen to create a 'chicken-wire' network within the GBM.

COL4A1 is also known as BSVD, BSVD1, COL4A1s, PADMAL, RATOR.

Associated Diseases

• Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
• Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
• Brain small vessel disease 1 with or without ocular anomalies
• Walker-Warburg syndrome
• Retinal arteries, tortuosity of
• HANAC syndrome
• COL4A1-related brain small-vessel disease
• Familial porencephaly
• Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome