SLC25A32 (solute carrier family 25 member 32)

2014-08-01  

Identity

HGNC
LOCATION
8q22.3
LOCUSID
ALIAS
GLYB,MFT,MFTC,RREI
FUSION GENES

Other Information

Locus ID:

NCBI: 81034
MIM: 610815
HGNC: 29683
Ensembl: ENSG00000164933

Variants:

dbSNP: 81034
ClinVar: 81034
TCGA: ENSG00000164933
COSMIC: SLC25A32

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164933ENST00000297578Q9H2D1
ENSG00000164933ENST00000297578A0A024R9D0
ENSG00000164933ENST00000521645E5RGT9
ENSG00000164933ENST00000523256E5RGK5
ENSG00000164933ENST00000523866E5RFL3

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
217680942011Tetrahydrofolate recognition by the mitochondrial folate transporter.12
296662582018Formate rescues neural tube defects caused by mutations in Slc25a32.12
284436232017Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.6
243543572014Polymorphism of SLC25A32, the folate transporter gene, is associated with plasma folate levels and bone fractures in Japanese postmenopausal women.4
193623042009Mitochondrial fatty acid transport enzyme deficiency--implications for in vitro fertilization.1

Citation

Dessen P

SLC25A32 (solute carrier family 25 member 32)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54630/slc25a32