SAMM50

SAMM50 sorting and assembly machinery component
Identifiers
Symbols	SAMM50 ; CGI-51; OMP85; SAM50; TOB55; TRG-3; YNL026W
External IDs	OMIM: 612058 MGI: 1915903 HomoloGene: 41034 GeneCards: SAMM50 Gene
Gene ontology Molecular function • protein binding Cellular component • mitochondrial sorting and assembly machinery complex • mitochondrion • mitochondrial outer membrane • mitochondrial inner membrane • integral component of membrane • extracellular exosome Biological process • protein targeting to mitochondrion • mitochondrial respiratory chain complex assembly • cristae formation • cellular protein metabolic process • protein import into mitochondrial outer membrane Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	25813	68653
Ensembl	ENSG00000100347	ENSMUSG00000022437
UniProt	Q9Y512	Q8BGH2
RefSeq (mRNA)	NM_015380	NM_178614
RefSeq (protein)	NP_056195	NP_848729
Location (UCSC)	Chr 22: 43.96 – 44.01 Mb	Chr 15: 84.19 – 84.21 Mb
PubMed search

Sorting and assembly machinery component 50 homolog is a protein that in humans is encoded by the SAMM50 gene.^[1][2]

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,^[3] 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

1. Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT (Mar 2005). "Dissection of the mitochondrial import and assembly pathway for human Tom40". The Journal of Biological Chemistry 280 (12): 11535–43. doi:10.1074/jbc.M413816200. PMID 15644312.
2. "Entrez Gene: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)".
3. "describingezra.org – …he looks ridiculously cute in his genes and other important things.". www.describingezra.org. Retrieved 2016-03-07.

Further reading

• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (May 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
• Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biology 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
• Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T (Jun 2007). "Conserved roles of Sam50 and metaxins in VDAC biogenesis". EMBO Reports 8 (6): 576–82. doi:10.1038/sj.embor.7400982. PMC 2002532. PMID 17510655.
• Xie J, Marusich MF, Souda P, Whitelegge J, Capaldi RA (Jul 2007). "The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11". FEBS Letters 581 (18): 3545–9. doi:10.1016/j.febslet.2007.06.052. PMID 17624330.