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- Cornulin
- DRC1
- PDRC1
- SEP53
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The encoded
protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and
threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous
epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune
response and epidermal differentiation.
Survival
factor that participates in the clonogenicity of squamous esophageal epithelium cell
lines, attenuates deoxycholic acid (DCA)-induced apoptotic cell death and release of
calcium. When overexpressed in oral squamous carcinom cell lines, regulates negatively
cell proliferation by the induction of G1 arrest.
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- Location: 1q21
- Size: 5032 bp
- exons:
- DNA sequence (Human): NC_000001.10
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- Mutations and SNPs (According
to HGMD and SNP)
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