Gene Symbol | CCDC174 |
Entrez Gene ID | 51244 |
Full Name | coiled-coil domain containing 174 |
Synonyms | C3orf19,HSPC212,IHPM,IHPMR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]. |
Disorder MIM: | |
Disorder Html: | Hypotonia, infantile, with psychomotor retardation, 616816 (3) |