VWA1

VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).

Full Name

Von Willebrand Factor A Domain Containing 1

Function

Promotes matrix assembly (By similarity).
Involved in the organization of skeletal muscles and in the formation of neuromuscular junctions (Probable).

Biological Process

Biological Process behavioral response to pain Source:Ensembl
Biological Process extracellular matrix organization Source:Ensembl

Cellular Location

Secreted, extracellular space, extracellular matrix, basement membrane

Involvement in disease

Neuropathy, hereditary motor, with myopathic features (HMNMYO):
An autosomal recessive, neuromyopathic disorder that manifests in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Affected individuals have difficulty climbing stairs and problems standing on the heels. Most patients have foot deformities, and some may have leg muscle atrophy. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy.

PTM

N-glycosylated.