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SAMM50

From Wikipedia, the free encyclopedia
SAMM50
Identifiers
AliasesSAMM50, OMP85, SAM50, TOB55, TRG-3, YNL026W, CGI-51, SAMM50 sorting and assembly machinery component
External IDsOMIM: 612058; MGI: 1915903; HomoloGene: 41034; GeneCards: SAMM50; OMA:SAMM50 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015380

NM_178614

RefSeq (protein)

NP_056195

NP_848729

Location (UCSC)Chr 22: 43.96 – 44.01 MbChr 15: 84.08 – 84.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sorting and assembly machinery component 50 homolog is a protein that in humans is encoded by the SAMM50 gene.[5][6]

Clinical significance

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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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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100347Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022437Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ "Entrez Gene: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)".

Further reading

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