SLC25A13 solute carrier family 25 member 13
Gene ID: 10165, updated on 7-Apr-2024Gene type: protein coding
Also known as: CTLN2; NICCD; CITRIN; ARALAR2
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC25A13
- Go to Variation Viewer for SLC25A13 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Citrullinemia type II MedGen: C1863844GeneReviews: Citrin Deficiency | See labs |
| Citrullinemia, type II, adult-onset | See labs |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Neonatal intrahepatic cholestasis due to citrin deficiency | See labs |
Genomic context
- Location:
- 7q21.3
- Sequence:
- Chromosome: 7; NC_000007.14 (96120220..96322098, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC25A13 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC25A13 @ LOVD
- Variation ViewerRelated Variants
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