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Sorting and assembly machinery component 50 homolog is a
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''SAMM50''
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.


Clinical significance

By means of exome sequencing, two variants - P377A and V231I on the SAMM50 gene were determined to have a potential relationship to the disease phenotype of Ezra, 9 year old male with Epilepsy, ESES, Hemiplegic Migraine, Exocrine Pancreatic Insuffiency, CSID, Global Apraxia, developmental regressions. History of torticollis, psychomotor regression, colitis as well as Carnitine Deficiency.


References


Further reading

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