Gene Symbol | CCDC115 |
Entrez Gene ID | 84317 |
Full Name | coiled-coil domain containing 115 |
Synonyms | CDG2O,ccp1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type IIo, 616828 (3) |