Identity
HGNC
LOCATION
22q13.31
LOCUSID
ALIAS
CGI-51,OMP85,SAM50,TOB55,TRG-3,YNL026W
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 25813
MIM: 612058
HGNC: 24276
Ensembl: ENSG00000100347
Variants:
dbSNP: 25813
ClinVar: 25813
TCGA: ENSG00000100347
COSMIC: SAMM50
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100347 | ENST00000350028 | Q9Y512 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism of proteins | REACTOME | R-HSA-392499 |
| Mitochondrial protein import | REACTOME | R-HSA-1268020 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37613698 | 2023 | Sam50 is Associated with Fragmentation and Alterations in Metabolism in Human and Murine Myotubes. | 2 |
| 37613698 | 2023 | Sam50 is Associated with Fragmentation and Alterations in Metabolism in Human and Murine Myotubes. | 2 |
| 34490745 | 2022 | Effects of PNPLA3, TM6SF2 and SAMM50 on the development and severity of non-alcoholic fatty liver disease in children. | 3 |
| 35313046 | 2022 | Loss of Sam50 in hepatocytes induces cardiolipin-dependent mitochondrial membrane remodeling to trigger mtDNA release and liver injury. | 26 |
| 34490745 | 2022 | Effects of PNPLA3, TM6SF2 and SAMM50 on the development and severity of non-alcoholic fatty liver disease in children. | 3 |
| 35313046 | 2022 | Loss of Sam50 in hepatocytes induces cardiolipin-dependent mitochondrial membrane remodeling to trigger mtDNA release and liver injury. | 26 |
| 33728819 | 2021 | The role of SAMM50 in non-alcoholic fatty liver disease: from genetics to mechanisms. | 11 |
| 34037656 | 2021 | SAMM50 acts with p62 in piecemeal basal- and OXPHOS-induced mitophagy of SAM and MICOS components. | 24 |
| 33728819 | 2021 | The role of SAMM50 in non-alcoholic fatty liver disease: from genetics to mechanisms. | 11 |
| 34037656 | 2021 | SAMM50 acts with p62 in piecemeal basal- and OXPHOS-induced mitophagy of SAM and MICOS components. | 24 |
| 29271184 | 2018 | Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population. | 30 |
| 29307798 | 2018 | Genetic variants in COL13A1, ADIPOQ and SAMM50, in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population. | 18 |
| 29874585 | 2018 | Sam50 Regulates PINK1-Parkin-Mediated Mitophagy by Controlling PINK1 Stability and Mitochondrial Morphology. | 46 |
| 29271184 | 2018 | Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population. | 30 |
| 29307798 | 2018 | Genetic variants in COL13A1, ADIPOQ and SAMM50, in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population. | 18 |
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-(samm50-sorting-and-assembly-machinery-component)
