cstb gene - EAS

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  1. 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 …

  2. CSTB Gene - GeneCards | CYTB Protein | CYTB Antibody

    https://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTB

    WebNov 09, 2022 · CSTB (Cystatin B) is a Protein Coding gene. Diseases associated with CSTB include Myoclonic Epilepsy Of Unverricht And Lundborg and Unverricht-Lundborg …

    What is CSTB gene?
    See this and other topics on this result
  3. 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 …

  4. People also ask
    What is the repeating sequence of the CSTB gene?One 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 repeat, is usually repeated two or three times within a part of the gene that helps regulate cystatin B protein production.
    medlineplus.gov/genetics/gene/cstb/
    What does the CST3 gene do?The 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 types of chemical reactions by blocking (inhibiting) the activity of certain enzymes.
    medlineplus.gov/genetics/gene/cst3/
    What is cystatin B in humans?Cystatin B, Human. Cystatin-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 the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity.
    en.wikipedia.org/wiki/Cystatin_B
    Does cystatin B (stefin B) inhibit cysteine proteinases?"Role of the single cysteine residue, Cys 3, of human and bovine cystatin B (stefin B) in the inhibition of cysteine proteinases". Protein Sci. United States. 10 (9): 1729–38. doi: 10.1110/ps.11901.
    en.wikipedia.org/wiki/Cystatin_B
  5. CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies

    https://www.mayocliniclabs.com/test-catalog/Overview/616515

    WebCSTB Gene, Repeat Expansion Analysis, Varies Useful For Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full …

  6. 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 …

  7. CSTB Gene, Repeat Expansion Analysis, Varies - Mayo Clinic …

    https://www.testcatalog.org/show/CSTB

    WebIdentifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for predictive testing of at-risk …

  8. 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 …

  9. 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 …

  10. 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 …

  11. 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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