Gene Symbol | CFAP410 |
Entrez Gene ID | 755 |
Full Name | chromosome 21 open reading frame 2 |
Synonyms | LRRC76,RDMS,SMDAX,YF5/A2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Spondylometaphyseal dysplasia, axial, 602271 (3); Retinal dystrophy with macular staphyloma, 617547 (3) |