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Results 1 - 8 of 8 for Proline
  1. Hyperprolinemia 
    ... a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. ...
    https://medlineplus.gov/genetics/condition/hyperprolinemia - Genetics
  2. Prolidase deficiency 
    ... Specifically, prolidase divides dipeptides containing the amino acids proline or hydroxyproline. By freeing these amino acids, prolidase ... a family of proteins that are rich in proline and hydroxyproline. Collagens are an important part of ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  3. Cutis laxa 
    ... formation of the protein building block (amino acid) proline, which is a key component of elastic fiber ... the skin. It is unclear if disruption of proline formation plays a role in the development of ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  4. Liddle syndrome 
    ... channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. ... D. WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel ...
    https://medlineplus.gov/genetics/condition/liddle-syndrome - Genetics
  5. Gyrate atrophy of the choroid and retina 
    ... be converted into the amino acids glutamate and proline.OAT gene mutations that cause gyrate atrophy result ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  6. Familial paroxysmal kinesigenic dyskinesia 
    ... Liu XR, Tang BS, Chen SD, Cao L. Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: ...
    https://medlineplus.gov/...amilial-paroxysmal-kinesigenic-dyskinesia - Genetics
  7. Epidermolytic hyperkeratosis 
    ... DiGiovanna JJ, Compton JG, Steinert PM. A leucine----proline mutation in the H1 subdomain of keratin 1 ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  8. Congenital sucrase-isomaltase deficiency 
    ... sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of ...
    https://medlineplus.gov/.../congenital-sucrase-isomaltase-deficiency - Genetics