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SLC25A13 (NM_001160210) - solute carrier family 25 member 13

Calcium-Binding Mitochondrial Carrier Protein Aralar2 Isoform 1

Mutations Visualisation

Protein summary

This is an alternative isoform of SLC25A13 protein. View all 2 isoforms
SLC25A13: calcium-binding mitochondrial carrier protein Aralar2 isoform 1
Description:

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].

Strand
-
Chromosome
7
Protein
676 residues
All mutations
127
PTM sites
16
CDS
95,750,502 - 95,951,268
Transcription
95,749,531 - 95,951,459
5.47% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 10165
UniProt
Ensembl