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GeneQ18068044· pop 7· linked from 87 articles

Also known as CASP-12, CASP12P1, caspase 12 (gene/pseudogene), caspase 12, Caspase-12, Caspase_12, IPR035713

protein-coding gene in the species Homo sapiens

Gene data

CASP12
Name
caspase 12 (gene/pseudogene)
Type
protein-coding
Position
104,885,718–104,898,670 (−)
Aliases
CASP-12, CASP12P1
RefSeq RNA
NM_001191016.3, NR_000035.2, NR_034061.4, NR_034063.4, NR_034064.4
RefSeq protein
NP_001177945.2

Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011].

via MyGene.info

Gene · Ensembl

caspase 12 (gene/pseudogene)

Symbol
CASP12
Biotype
Protein coding
Organism
Homo sapiens
Location
11:104,885,718-104,898,670
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 4 more facts
cytogenetic location
11q22.3
genomic start
104756445
genomic end
104769397
Sources (6)

via Wikidata · CC0

Available in 7 languages

via Wikidata sitelinks · CC0

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