CSTB

GENE INFORMATION

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Gene name

CSTB (HGNC Symbol)

Synonyms

CST6, EPM1, PME, STFB

Description

Cystatin B (stefin B) (HGNC Symbol)

Entrez gene summary

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). [provided by RefSeq, Jul 2008]

Chromosome

21

Cytoband

q22.3

Chromosome location (bp)

43772512 - 43776445

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000160213 (version 78.38)

Entrez gene

1476

UniProt

P04080 (UniProt - Evidence at protein level)

neXtProt

NX_P04080

Antibodypedia

CSTB antibodies
 

PROTEIN VIEW

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CSTB-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CSTB-001 ENSP00000291568
ENST00000291568
P04080
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