CAST gene

calpastatin

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

From NCBI Gene:

The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]

From UniProt:

Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue.

From NCBI Gene:

  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads

From UniProt:

Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK): An autosomal recessive disease characterized by generalized, continuous shedding of the outer layers of the epidermis, leukonychia, acral punctate keratosis, cheilitis, knuckle pads with multiple hyperkeratotic micropapules involving the interphalangeal joints, and palmoplantar keratoderma. [MIM:616295]

Cytogenetic Location: 5q15, which is the long (q) arm of chromosome 5 at position 15

Molecular Location: base pairs 96,662,037 to 96,774,683 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q15, which is the long (q) arm of chromosome 5 at position 15
  • BS-17
  • PLACK