Protein Domain : IPR029658

Type:  Family Name:  Calcium-binding mitochondrial carrier protein Aralar2
Description:  Aralar2 (also known as citrin) shares protein sequence similarity with Aralar1. Both are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria []. Like Aralar1, Aralar2 contains an N-terminal calcium binding domain (EF-hand domains) and a C-terminal domain that is characteristic for the mitochondrial solute-carriers []. Unlike Aralar1, Aralar2 is expressed in human non-excitable tissues [].Mutations in Aralar2 gene cause Citrullinemia 2 (CTLN2), which is a form of citrullinemia, an autosomal recessive disease characterised primarily by elevated serum and urine citrulline levels [, ]. Many many symptoms of CTLN2 are interpretable based on the function of citrin as a aspartate glutamate carrier with a role in urea synthesis and the malate-aspartate shuttle []. Short Name:  Aralar2
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0 Child Features

0 Contains

1 Cross References

Identifier
PTHR24089:SF265

0 Found In

7 GO Annotations

GO Term Gene Name
GO:0005313 IPR029658
GO:0005509 IPR029658
GO:0015183 IPR029658
GO:0015810 IPR029658
GO:0015813 IPR029658
GO:0043490 IPR029658
GO:0005739 IPR029658

7 Ontology Annotations

GO Term Gene Name
GO:0005313 IPR029658
GO:0005509 IPR029658
GO:0015183 IPR029658
GO:0015810 IPR029658
GO:0015813 IPR029658
GO:0043490 IPR029658
GO:0005739 IPR029658

1 Parent Features

DB identifier Type Name
IPR002067 Family Mitochondrial carrier protein

0 Proteins

5 Publications

First Author Title Year Journal Volume Pages PubMed ID
            11566871
            10642534
            10369257
            10610724
            15050970