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CSTB

cystatin B (stefin B)

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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.


  Gene Expression Pattern     Gene Network    dbSNP    OMIM  


TRANSCRIPTS LIST

5'/3'UTRs Partially Coding Exons Coding Exons Introns


Promoter 3'UTR

NM_000100; ENST00000291568.5

Gene: NM:NM_000100; ENST00000291568.5 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 INTRON 1 INTRON 2
Promoter 3'UTR

ENST00000480147.1

Gene: NM:ENST00000480147.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 INTRON 1 INTRON 2 INTRON 3 INTRON 4





Updated on June 12, 2013