SPEG gene

SPEG complex locus

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

From NCBI Gene:

This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]

From UniProt:

Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Myopathy, centronuclear, 5

From UniProt:

Myopathy, centronuclear, 5 (CNM5): A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy. [MIM:615959]

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35

Molecular Location: base pairs 219,434,215 to 219,493,632 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35
  • APEG-1
  • APEG1
  • BPEG
  • CNM5
  • SPEGalpha
  • SPEGbeta