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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.
Gene Name: | chromosome 21 open reading frame 2 |
Synonyms: | C21orf2, C21orf-HUMF09G8.5, YF5 |
Target Sequences: | NM_004928 NP_004919.1 O43822 |
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