FBLN1
Description
The FBLN1 (fibulin 1) is a protein-coding gene located on chromosome 22.
Fibulin-1, encoded by the FBLN1 gene, is a protein found in the extracellular matrix and plasma. It interacts with various matrix components like fibronectin fibers, elastin fibers, and basement membranes. Fibulin-1 binds to several proteins within the matrix, including fibronectin, nidogen-1, and the proteoglycan versican. Additionally, it acts as a blood protein with the ability to bind fibrinogen. Structurally, Fibulin-1 is composed of a modular domain structure. It features nine epidermal growth factor-like modules followed by a fibulin-type module, a characteristic feature of all fibulin family members. The human FBLN1 gene produces four splice variants (fibulin-1A, B, C, and D) that differ in their carboxy terminal regions.
FBLN1 is also known as FBLN, FIBL1.
Associated Diseases
- Synpolydactyly 2
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
