von Willebrand factor A domain-containing protein 1

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

Neuronopathy, hereditary motor, autosomal recessive 7

HMNR7

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.

None

The disease is caused by variants affecting the gene represented in this entry.

N-glycosylated.

• Secreted
• Extracellular space
• Extracellular matrix
• Basement membrane

von Willebrand factor A domain-containing protein 1, VWA1

• entrezGene:64856
• omim:611901
• swissprot:Q6PCB0

Proteins

Oncology

46804Da