cstb gene - EAS
- https://medlineplus.gov/genetics/gene/cstb
WebThe CSTB gene provides instructions for making a protein called cystatin B. This protein reduces the activity of (inhibits) enzymes called cathepsins. Cathepsins help break down certain proteins in the lysosomes (compartments in the cell that digest and …
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CSTB Gene - GeneCards | CYTB Protein | CYTB Antibody
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTBWebNov 09, 2022 · CSTB (Cystatin B) is a Protein Coding gene. Diseases associated with CSTB include Myoclonic Epilepsy Of Unverricht And Lundborg and Unverricht-Lundborg …
- https://www.ncbi.nlm.nih.gov/gtr/genes/1476
WebDec 04, 2022 · Gene type: protein coding Also known as: PME; ULD; CST6; EPM1; STFB; CPI-B; EPM1A See all available tests in GTR for this gene Go to complete Gene record …
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CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies
https://www.mayocliniclabs.com/test-catalog/Overview/616515WebCSTB Gene, Repeat Expansion Analysis, Varies Useful For Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full …
- https://www.invitae.com/en/providers/test-catalog/gene-20128
WebCSTB. Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and clinical care for a …
CSTB Gene, Repeat Expansion Analysis, Varies - Mayo Clinic …
https://www.testcatalog.org/show/CSTBWebIdentifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for predictive testing of at-risk …
- https://medlineplus.gov/genetics/gene/cst3
WebThe CST3 gene provides instructions for making a protein called cystatin C. This protein is part of a family of proteins called cysteine protease inhibitors that help control several …
- https://medlineplus.gov/download/genetics/gene/cstb.pdf
WebOne region of the CSTB gene has a particular repeating sequence of 12 DNA building blocks (nucleotides) written as CCCCG-CCCCG-CG. This sequence, called a dodecamer …
- https://www.omim.org/entry/601145
WebGene-Phenotype Relationships PheneGene Graphics TEXT Description Stefin B (also called cystatin B) is a small protein that is a member of the superfamily of cysteine …
- https://en.wikipedia.org/wiki/Cystatin_B
WebCystatin-B is a protein that in humans is encoded by the CSTB gene. The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of …
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