SLC25A13 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SLC25A13 (HGNC:10983) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 25 member 13
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CTLN2
- Alias symbols
- CITRIN, ARALAR2
- %HI
- 25.1(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.94(Read more about gnomAD LOEUF score)
- Cytoband
- 7q21.3
- Genomic Coordinates
-
GRCh37/hg19: chr7:95749532-95951410 NCBI Ensembl UCSC GRCh38/hg38: chr7:96120220-96322098 NCBI Ensembl UCSC - MANE Select Transcript
- NM_014251.3 ENST00000265631.10 (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). 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-17780
ClinGen Curation ID:
CCID:007870
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:
- neonatal intrahepatic cholestasis due to citrin deficiency Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)