Caspase 14, Apoptosis-Related Cysteine Protease

Alternative Names

  • CASP14
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OMIM Number

605848

NCBI Gene ID

23581

Uniprot ID

P31944

Length

8,814 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Caspase-14

Molecular Mass

27680 Da

Amino Acid Count

242

Genomic Location

chr19:15,049,479-15,058,292

Gene Map Locus
19p13.12

Description

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [From RefSeq

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012114.3:c.418G>A LebanonNC_000019.10:g.15055172G>AUncertain SignificanceNM_012114.3:c.418G>A ; NP_036246.1:p.Gly140Ser761542772
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