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Gene : CSTB Homo sapiens

Name  ? cystatin B Cytological Location  21q22.3
Brief Description  cystatin B
Description  The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]
  • synonyms:
  • CPI-B,
  • CST6,
  • STFB,
  • CSTB,
  • uc002zdr.5,
  • ULD,
  • NM_000100,
  • HGNC:2482,
  • CST6,
  • EPM1,
  • EPM1,
  • PME,
  • stefin B,
  • OTTHUMG00000086886,
  • PME,
  • Epilepsy, progressive myoclonic 1,
  • L03558,
  • cystatin B (stefin B),
  • EPM1A,
  • STFB
  • identifiers:
  • 1476,
  • ENSG00000160213,
  • CSTB

Genome feature

Region: gene ? Length: 2359  
Location: 21:43773950-43776308 reverse strand Cyto location: 21q22.3

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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3740 SNPs

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results