LP32722-8
CSTB gene
Active
Description
The CSTB gene (cystatin B (stefin B)) [HGNC Gene ID:2482] is located on chromosome 21q22.3. 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] [NCBI Gene ID:1476] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- CSTB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-10-28
- Construct for LOINC Short Name
- CSTB gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP32722-8 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP32722-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CSTB 基因 Synonyms: CPI-B; |
| et-EE | Estonian (Estonia) | CSTB geen |
| es-ES | Spanish (Spain) | Gen CSTB |
| it-IT | Italian (Italy) | CSTB, gene Synonyms: Gene CSTB |
| tr-TR | Turkish (Turkey) | CSTB geni |
| ru-RU | Russian (Russian Federation) | CSTB ген |
| nl-NL | Dutch (Netherlands) | CSTB-gen Synonyms: CSTB gen |
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