SLC25A12

  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC25A12 (HGNC:10982) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 25 member 12
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
Aralar, aralar1, AGC1
%HI
9.53(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.22(Read more about gnomAD pLI score)
LOEUF
0.42(Read more about gnomAD LOEUF score)
Cytoband
2q31.1
Genomic Coordinates
GRCh37/hg19: chr2:172639915-172750754 NCBI Ensembl UCSC
GRCh38/hg38: chr2:171783405-171894244 NCBI Ensembl UCSC
MANE Select Transcript
NM_003705.5 ENST00000422440.7 (Read more about MANE Select)
Function
Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:19641205, PubMed:24515575). Also mediates the uptake of L-cysteinesulfinate by mitochondria in exchange of L- glutamate and proton. Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation (PubMed:11566871). {ECO:0000269|PubMed:11566871... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8368
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
01/19/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)