SAMM50
Protein-coding gene in the species Homo sapiens
Sorting and assembly machinery component 50 homolog is a protein that in humans is encoded by the SAMM50 gene.
01Clinical 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.
Sources and credits
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Images, from Wikimedia Commons:
- Ideogram human chromosome 22.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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