SLC25A46

Source: Wikipedia, the free encyclopedia.
SLC25A46
Identifiers
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_001303249
NM_001303250
NM_138773

NM_026165
NM_001357461

RefSeq (protein)

NP_001290178
NP_001290179
NP_620128

NP_080441
NP_001344390

Location (UCSC)Chr 5: 110.74 – 110.77 MbChr 18: 31.69 – 31.74 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 25 member 46 is a protein that in humans is encoded by the SLC25A46 gene. This protein is a member of the SLC25 mitochondrial solute carrier family. It is a transmembrane protein located in the mitochondrial outer membrane involved in lipid transfer from the endoplasmic reticulum (ER) to mitochondria.[5][6] Mutations in this gene result in neuropathy and optic atrophy.[7]

Structure

The SLC25A46 gene is located on the q arm of

amino acids.[8][9] This gene has 8 exons and encodes a multi-pass integral membrane protein localized to the mitochondrial outer membrane.[10][11][12]

Function

The encoded protein is an orphan transporter involved in lipid transfer from the endoplasmic reticulum to mitochondria.[13][6] It promotes mitochondrial fission and prevents the formation of hyperfilamentous mitochondria. This protein forms a complex with mitofilin (IMMT) on the inner mitochondrial membrane, independent of MFN2.[5]

Clinical Significance

Mutations in the SLC25A46 gene, inherited in an

Charcot-Marie-Tooth disease, with variable age at onset and severity.[11][12]

Overexpression of this protein causes mitochondrial fragmentation while knockdown of this protein causes mitochondrial hyperfusion and hyperfilamentous mitochondria due to decreased mitochondrial fission.[5] Loss of this gene also has many other effects: premature cellular senescence, impaired cellular respiration, destabilization of the MICOS (mitochondrial contact site and cristae organizing system) complex, loss of and shortened cristae, altered ER morphology, impaired cell migration, and changes in mitochondrial phospholipid composition.[6]

Interactions

This protein

OPA1 and MFN2.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164209Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024259Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^
    PMID 26168012
    .
  6. ^ .
  7. ^ a b "Entrez Gene: Solute carrier family 25 member 46". Retrieved 2018-08-17.Public Domain This article incorporates text from this source, which is in the public domain.
  8. PMID 23965338
    .
  9. ^ "SLC25A46 - Solute carrier family 25 member 46". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).[permanent dead link]
  10. ^ Online Mendelian Inheritance in Man (OMIM): solute carrier family 25, member 46; SLC25A46 - 610826
  11. ^ a b c "SLC25A46 - Solute carrier family 25 member 46 - Homo sapiens (Human) - SLC25A46 gene & protein". www.uniprot.org. Retrieved 2018-08-16. This article incorporates text available under the CC BY 4.0 license.
  12. ^
    PMID 27899622
    .
  13. .
  14. ^ "SLC25A46 binary interactions found for search term SLC25A46". IntAct Molecular Interaction Database. EMBL-EBI. Retrieved 2018-08-18.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.