NID1
Description
The NID1 (nidogen 1) is a protein-coding gene located on chromosome 1.
NID1, also known as Nidogen-1, is a protein encoded by the NID1 gene. It is a critical component of basement membranes, interacting with collagen IV, laminin, and perlecan. NID1 forms connections between collagen and laminin networks within basement membranes, potentially contributing to cell interactions with the extracellular matrix. Mutations in NID1 are linked to autosomal dominant Dandy–Walker malformation with occipital encephalocele (ADDWOC).
NID1 encodes a sulfated glycoprotein found in basement membranes. It interacts with laminin and binds to collagen IV and perlecan. NID1 likely plays a role in cell-extracellular matrix interactions.
NID1 is also known as NID.
Associated Diseases
- isolated Dandy-Walker malformation without hydrocephalus
- cerebellar dysfunction with variable cognitive and behavioral abnormalities
