Caspase 8, Apoptosis-Related Cysteine Protease

Alternative Names

  • CASP8
  • MORT1-Associated CED3 Homolog
  • MACH
  • FADD-Homologous ICE/CED3-Like Protease
  • FADD-Like ICE
  • FLICE
  • MCH5

Associated Diseases

Breast Cancer
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OMIM Number

601763

NCBI Gene ID

841

Uniprot ID

Q14790

Length

54,269 bases

No. of Exons

15

No. of isoforms

9

Protein Name

Caspase-8

Molecular Mass

55391 Da

Amino Acid Count

479

Genomic Location

chr2:201,233,443-201,287,711

Gene Map Locus
2q33.1

Description

The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [From refSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001080125.2:c.*429A>GLebanonchr2:201287023Benign, Likely BenignUncertain SignificanceBreast CancerNG_007497.1:g.58566A>G ; NM_001080125.2:c.*429A>G17860433333519
NM_001080125.2:c.1117A>GLebanonNC_000002.12:g.201284953A>GUncertain SignificanceUncertain SignificanceBreast CancerNG_007497.1:g.56496A>G; NM_001080125.2:c.1117A>G; NP_001073594.1:p.Ile373Val1481805
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