SLC25A13 Chromosome 7
Solute carrier family 25 member 13
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What This Gene Does
This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Gene Info
Gene Group
"EF-hand domain containing|MicroRNA protein coding host genes|Solute carrier family 25"
Locus Type
gene with protein product
Location
7q21.3
Ensembl
ENSG00000004864
Associated Conditions (17)
Citrin deficiency
Citrullinemia type II
Inborn genetic diseases
Citrullinemia
Neonatal intrahepatic cholestasis due to citrin deficiency
type II
adult-onset
SLC25A13-related disorder
Adult-onset citrullinemia type I
Short-rib thoracic dysplasia 6 with or without polydactyly
Citrullinemia type I
Melanoma
CITRIN DEFICIENCY
NEONATAL ONSET
Malignant lymphoma
large B-cell
diffuse
Key Variants
RS1053861538
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS1173610818
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS1207471194
Conflicting classifications of pathogenicity
Citrullinemia type II, Citrin deficiency, Citrullinemia type II
Health Risk
RS121908532
Conflicting classifications of pathogenicity
Citrullinemia type II, Inborn genetic diseases, Citrullinemia
Health Risk
RS1363947528
Conflicting classifications of pathogenicity
Citrullinemia, type II, adult-onset
Health Risk
RS138094550
Conflicting classifications of pathogenicity
Citrin deficiency, SLC25A13-related disorder, Citrin deficiency
Health Risk
RS139149160
Conflicting classifications of pathogenicity
Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type II, Citrin deficiency
Health Risk
RS1410802687
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS141152495
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS143181462
Conflicting classifications of pathogenicity
Citrullinemia, type II, adult-onset
Health Risk
RS143706021
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS143877538
Conflicting classifications of pathogenicity
Citrullinemia type II, Citrin deficiency, Citrullinemia
Health Risk
All Variants (208)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780525233 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia, type II, adult-onset |
| RS781452100 | Health Risk | Pathogenic/Likely pathogenic | Citrin deficiency, Citrullinemia, type II |
| RS80338715 | Health Risk | Pathogenic/Likely pathogenic | Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency, Citrullinemia |
| RS80338721 | Health Risk | Pathogenic/Likely pathogenic | Citrin deficiency, Citrullinemia type II, Citrullinemia |
| RS80338726 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency |
| RS80338729 | Health Risk | Pathogenic/Likely pathogenic | Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia, type II |
| RS879255502 | Health Risk | Pathogenic/Likely pathogenic | Citrin deficiency, Citrullinemia, type II |
| RS973986984 | Health Risk | Pathogenic/Likely pathogenic | Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia |