HSPB3 gene

heat shock protein family B (small) member 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]

From UniProt:

Inhibitor of actin polymerization.

From NCBI Gene:

  • Distal hereditary motor neuronopathy type 2C

From UniProt:

Neuronopathy, distal hereditary motor, 2C (HMN2C): A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. [MIM:613376]

Cytogenetic Location: 5q11.2, which is the long (q) arm of chromosome 5 at position 11.2

Molecular Location: base pairs 54,455,601 to 54,456,384 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q11.2, which is the long (q) arm of chromosome 5 at position 11.2
  • DHMN2C
  • HMN2C
  • HSPL27