CAPN1 gene

calpain 1

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

From NCBI Gene:

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

From UniProt:

Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.

From NCBI Gene:

  • Spastic paraplegia 76, autosomal recessive

From UniProt:

Spastic paraplegia 76, autosomal recessive (SPG76): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [MIM:616907]

Cytogenetic Location: 11q13.1, which is the long (q) arm of chromosome 11 at position 13.1

Molecular Location: base pairs 65,181,215 to 65,212,006 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.1, which is the long (q) arm of chromosome 11 at position 13.1
  • CANP
  • CANP1
  • CANPL1
  • muCANP
  • muCL
  • SPG76