SAMM50
{{Short description|Protein-coding gene in the species Homo sapiens}}
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Sorting and assembly machinery component 50 homolog is a protein that in humans is encoded by the SAMM50 gene.{{cite journal | vauthors = Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT | title = Dissection of the mitochondrial import and assembly pathway for human Tom40 | journal = The Journal of Biological Chemistry | volume = 280 | issue = 12 | pages = 11535–43 | date = Mar 2005 | pmid = 15644312 | doi = 10.1074/jbc.M413816200 | doi-access = free }}{{cite web | title = Entrez Gene: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25813}}
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.
References
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Further reading
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- {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
- {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
- {{cite journal | vauthors = Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W | title = Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics | journal = Genome Research | volume = 10 | issue = 5 | pages = 703–13 | date = May 2000 | pmid = 10810093 | pmc = 310876 | doi = 10.1101/gr.10.5.703 }}
- {{cite journal | vauthors = 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 | title = A genome annotation-driven approach to cloning the human ORFeome | journal = Genome Biology | volume = 5 | issue = 10 | pages = R84 | year = 2005 | pmid = 15461802 | pmc = 545604 | doi = 10.1186/gb-2004-5-10-r84 | doi-access = free }}
- {{cite journal | vauthors = Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T | title = Conserved roles of Sam50 and metaxins in VDAC biogenesis | journal = EMBO Reports | volume = 8 | issue = 6 | pages = 576–82 | date = Jun 2007 | pmid = 17510655 | pmc = 2002532 | doi = 10.1038/sj.embor.7400982 }}
- {{cite journal | vauthors = Xie J, Marusich MF, Souda P, Whitelegge J, Capaldi RA | title = 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 | journal = FEBS Letters | volume = 581 | issue = 18 | pages = 3545–9 | date = Jul 2007 | pmid = 17624330 | doi = 10.1016/j.febslet.2007.06.052 | doi-access = free }}
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