CAST

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]

Calpastatin

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.

Inhibition of cysteine-type endopeptidase activity Source: CAFA
Negative regulation of type B pancreatic cell apoptotic process Source: BHF-UCL
Presynaptic active zone organization Source: ARUK-UCL

Cytosol; Endoplasmic reticulum; Cytoplasm; Membrane

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.

The N-terminus is blocked.