Sorting and assembly machinery component 50 homolog is a protein that in humans is encoded by the SAMM50gene.[5][6]
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, 7 year old male with clinical diagnosis of Alternating Hemiplegia of Childhood, Hemiplegic Migraine, Abdominal Migraines/atypical Cyclic Vomiting, Exocrine Pancreatic Disorder. (Mild) Dystonia, developmental regressions, Global Apraxia/Dyspraxic. History of torticollis, psychomotor regression and colitis as well as Carnitine Deficiency. These variants have not been reported previously, making Ezra the only person known to have these variants. If you are reading this and have a child/patient/loved one with any of these variants or another variant on SAMM50 with any similarities in phenotype, please edit this form so that we can connect.
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