SLC25A1

  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC25A1 (HGNC:10979) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 25 member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SLC20A3
Alias symbols
CTP, CIC
%HI
46.07(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.06(Read more about gnomAD pLI score)
LOEUF
0.65(Read more about gnomAD LOEUF score)
Cytoband
22q11.21
Genomic Coordinates
GRCh37/hg19: chr22:19163094-19166249 NCBI Ensembl UCSC
GRCh38/hg38: chr22:19175581-19178736 NCBI Ensembl UCSC
MANE Select Transcript
NM_005984.5 ENST00000215882.10 (Read more about MANE Select)
Function
Mitochondrial electroneutral antiporter that exports citrate from the mitochondria into the cytosol in exchange for malate (PubMed:29031613, PubMed:29238895). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis-aconitate and to a lesser extend cis-aconitate, maleate and succinate (PubMed:29031613). In the cytoplasm citrate is important in the regulation of glycolysis through a feedback mechanism and in the production of acetyl-CoA which is needed for the synthes... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18911
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • D,L-2-hydroxyglutaric aciduria Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)