SAMM50

SAMM50
Identifiers
Aliases SAMM50, OMP85, SAM50, TOB55, TRG-3, YNL026W, CGI-51, SAMM50 sorting and assembly machinery component
External IDs MGI: 1915903 HomoloGene: 41034 GeneCards: SAMM50
Genetically Related Diseases
fatty liver disease[1]
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

25813

68653

Ensembl

ENSG00000100347

ENSMUSG00000022437

UniProt

Q9Y512

Q8BGH2

RefSeq (mRNA)

NM_015380

NM_178614

RefSeq (protein)

NP_056195.3

NP_848729.1

Location (UCSC) Chr 22: 43.96 – 44.01 Mb Chr 15: 84.19 – 84.21 Mb
PubMed search [2] [3]
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.[4][5]

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,[6] 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

  1. "Diseases that are genetically associated with SAMM50 view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. 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.
  5. "Entrez Gene: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)".
  6. "describingezra.org – …he looks ridiculously cute in his genes and other important things.". www.describingezra.org. Retrieved 2016-03-07.

Further reading

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