Species Human Entrez 25813 | Human Mouse Ensembl ENSG00000100347 | |
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Aliases SAMM50, OMP85, SAM50, TOB55, TRG-3, YNL026W, CGI-51, SAMM50 sorting and assembly machinery component External IDs MGI: 1915903 HomoloGene: 41034 GeneCards: SAMM50 | ||
Sorting and assembly machinery component 50 homolog is a protein that in humans is encoded by the SAMM50 gene.
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, a 3 year old male with neurodevelopmental disorder, episodes of psychomotor regression, history of macrocephaly and history of torticollis. These variants have not been reported previously, making Ezra the only person known to have these variants.
References
SAMM50 Wikipedia(Text) CC BY-SA