SAMM50

SAMM50
Identifiers
Aliases	SAMM50, OMP85, SAM50, TOB55, TRG-3, YNL026W, CGI-51, SAMM50 sorting and assembly machinery component
External IDs	OMIM: 612058; MGI: 1915903; HomoloGene: 41034; GeneCards: SAMM50; OMA:SAMM50 - orthologs
Gene location (Human) Chr. Chromosome 22 (human) Band 22q13.31 Start 43,955,442 bp End 44,010,531 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E2 Start 84,076,442 bp End 84,101,468 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell vastus lateralis muscle Skeletal muscle tissue of rectus abdominis muscle of thigh gastrocnemius muscle thoracic diaphragm triceps brachii muscle body of tongue Skeletal muscle tissue of biceps brachii deltoid muscle Top expressed in Paneth cell otic placode saccule medullary collecting duct fossa condyle motor neuron renal corpuscle endocardial cushion substantia nigra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm integral component of membrane mitochondrial inner membrane outer membrane mitochondrial outer membrane extracellular exosome membrane mitochondrion SAM complex Biological process cristae formation protein insertion into mitochondrial outer membrane mitochondrial respiratory chain complex assembly Sources:Amigo / QuickGO
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: 84.08 – 84.1 Mb PubMed search
Wikidata
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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, 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.

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.