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Merck

C21orf2

chromosome 21 open reading frame 2

Synonyms:
YF5/A2
Species:
Human C21orf2 (755)
UniProtKB ID:
O43822, A8MPS9, O14993, Q8N5X6, Q99837, Q99838
Gene ID:
  • Human(755) Summary: 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]

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