CSTB (cystatin B (stefin B)) - Rat Genome Database

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Keyword

Gene: CSTB (cystatin B (stefin B)) Homo sapiens

Symbol:

CSTB

Name:

cystatin B (stefin 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). [provided by RefSeq, Jul 2008]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

CPI-B; CST6; cystatin b; cystatin-B; EPM1; EPM1A; liver thiol proteinase inhibitor; OTTHUMP00000109464; PME; stefin B; stefin-B; STFB; ULD

Orthologs:

Mus musculus : Cstb (cystatin B) MGI
Rattus norvegicus : Cstb (cystatin B (stefin B))

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	21	35,690,608 - 35,693,318	-	NCBI
Human Genome Assembly HuRef	21	30,561,944 - 30,564,654	-	NCBI
Human Genome Assembly GRCh37	21	45,193,546 - 45,196,256	-	NCBI
Human Genome Assembly Build 36	21	44,018,259 - 44,020,687	-	NCBI
Human Cytogenetic Map	21	q22.3		NCBI
Human Genome Assembly	21	44,018,259 - 44,020,687		NCBI