SAMM50 (SAMM50 sorting and assembly machinery component)

2014-11-01  

Identity

HGNC
LOCATION
22q13.31
LOCUSID
ALIAS
CGI-51,OMP85,SAM50,TOB55,TRG-3,YNL026W
FUSION GENES

Other Information

Locus ID:

NCBI: 25813
MIM: 612058
HGNC: 24276
Ensembl: ENSG00000100347

Variants:

dbSNP: 25813
ClinVar: 25813
TCGA: ENSG00000100347
COSMIC: SAMM50

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100347ENST00000350028Q9Y512

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
189403122008Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.150
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
176243302007The 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 DnaJC11.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
235359112013Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.58
222523212012Sam50 functions in mitochondrial intermembrane space bridging and biogenesis of respiratory complexes.47
175106552007Conserved roles of Sam50 and metaxins in VDAC biogenesis.31
265303282015Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.29
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

SAMM50 (SAMM50 sorting and assembly machinery component)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72972/samm50