Aliases for C21orf2 Gene
External Ids for C21orf2 Gene
Previous GeneCards Identifiers for C21orf2 Gene
Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
GeneCards Summary for C21orf2 Gene
C21orf2 (Chromosome 21 Open Reading Frame 2) is a Protein Coding gene. Diseases associated with C21orf2 include Spondylometaphyseal Dysplasia, Axial and Retinal Dystrophy With Or Without Macular Staphyloma.
UniProtKB/Swiss-Prot for C21orf2 Gene
Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490).