Identity
HGNC
LOCATION
5q22.1
LOCUSID
ALIAS
HMSN6B,PCH1E
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: 91137
MIM: 610826
HGNC: 25198
Ensembl: ENSG00000164209
Variants:
dbSNP: 91137
ClinVar: 91137
TCGA: ENSG00000164209
COSMIC: SLC25A46
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36977595 | 2023 | The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion. | 1 |
| 36977595 | 2023 | The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion. | 1 |
| 32259769 | 2020 | SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. | 9 |
| 32259769 | 2020 | SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. | 9 |
| 28653766 | 2018 | Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. | 15 |
| 28653766 | 2018 | Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. | 15 |
| 28057766 | 2017 | Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria. | 35 |
| 28369803 | 2017 | A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. | 9 |
| 28376083 | 2017 | Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health. | 11 |
| 28376086 | 2017 | Novel insights into SLC25A46-related pathologies in a genetic mouse model. | 19 |
| 28558379 | 2017 | SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. | 15 |
| 28637197 | 2017 | Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. | 14 |
| 28057766 | 2017 | Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria. | 35 |
| 28369803 | 2017 | A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. | 9 |
| 28376083 | 2017 | Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health. | 11 |
Citation
Dessen P
SLC25A46 (solute carrier family 25 member 46)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/56912/slc25a46-(solute-carrier-family-25-member-46)
