Biology:SAMM50
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 Generic protein structure example |
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, 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. 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 section so that we can connect.
References
- ↑ "Dissection of the mitochondrial import and assembly pathway for human Tom40". The Journal of Biological Chemistry 280 (12): 11535–43. Mar 2005. doi:10.1074/jbc.M413816200. PMID 15644312.
- ↑ "Entrez Gene: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25813.
Further reading
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. Jan 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. Oct 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research 10 (5): 703–13. May 2000. doi:10.1101/gr.10.5.703. PMID 10810093.
- "A genome annotation-driven approach to cloning the human ORFeome". Genome Biology 5 (10): R84. 2005. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
- "Conserved roles of Sam50 and metaxins in VDAC biogenesis". EMBO Reports 8 (6): 576–82. Jun 2007. doi:10.1038/sj.embor.7400982. PMID 17510655.
- "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. Jul 2007. doi:10.1016/j.febslet.2007.06.052. PMID 17624330.
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