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Results 1 - 10 of 11 for Cleavage
  1. Nonketotic hyperglycinemia 
    ... a group. This group, known as the glycine cleavage system, is responsible for breaking down glycine into ... addition, the breakdown of glycine by the glycine cleavage system produces a molecule called a methyl group. ...
    https://medlineplus.gov/.../condition/nonketotic-hyperglycinemia - Genetics
  2. DOCK8 immunodeficiency syndrome 
    ... clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015 Aug; ... deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of ...
    https://medlineplus.gov/.../dock8-immunodeficiency-syndrome - Genetics
  3. Spastic paraplegia type 15 
    ... by which dividing cells separate from one another (cytokinesis).Many ZFYVE26 gene mutations that cause spastic paraplegia ... a lack of spastizin protein interferes with normal cytokinesis and whether impaired cell division contributes to the ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  4. Multiple mitochondrial dysfunctions syndrome 
    ... also critical to the function of the glycine cleavage system, a set of proteins that breaks down ... In some affected individuals, impairment of the glycine cleavage system leads to a buildup of glycine. BOLA3 ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  5. Familial paroxysmal nonkinesigenic dyskinesia 
    ... Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum Mol Genet. 2011 Jun 15; ...
    https://medlineplus.gov/...lial-paroxysmal-nonkinesigenic-dyskinesia - Genetics
  6. Hereditary neuralgic amyotrophy 
    ... septins. Septins are involved in a process called cytokinesis, which is the step in cell division when ...
    https://medlineplus.gov/.../hereditary-neuralgic-amyotrophy - Genetics
  7. Multicentric osteolysis, nodulosis, and arthropathy 
    ... the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how ...
    https://medlineplus.gov/...tric-osteolysis-nodulosis-and-arthropathy - Genetics
  8. Congenital sucrase-isomaltase deficiency 
    ... Naim HY. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the ...
    https://medlineplus.gov/.../congenital-sucrase-isomaltase-deficiency - Genetics
  9. Triosephosphate isomerase deficiency 
    ... susceptibility of human triosephosphate isomerase to proteolysis. Asymmetric cleavage of the two monomers of the homodimeric enzyme. ...
    https://medlineplus.gov/.../triosephosphate-isomerase-deficiency - Genetics
  10. Permanent neonatal diabetes mellitus 
    ... the INS gene are believed to disrupt the cleavage of the proinsulin chain or the binding of ...
    https://medlineplus.gov/.../permanent-neonatal-diabetes-mellitus - Genetics
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