SAMM50

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SAMM50
Identifiers
AliasesSAMM50, OMP85, SAM50, TOB55, TRG-3, YNL026W, CGI-51, SAMM50 sorting and assembly machinery component
External IDsMGI: 1915903 HomoloGene: 41034 GeneCards: SAMM50
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for SAMM50
Genomic location for SAMM50
Band22q13.31Start43,955,421 bp[1]
End44,010,531 bp[1]
RNA expression pattern
PBB GE SAMM50 201569 s at fs.png

PBB GE SAMM50 201570 at fs.png
More reference expression data
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: 84.19 – 84.22 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[edit]

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,[7] 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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100347 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022437 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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)". 
  7. ^ "describingezra.org – …he looks ridiculously cute in his genes and other important things". www.describingezra.org. Retrieved 2016-03-07. 

Further reading[edit]