GENE NAME | CCDC88C |
CHROMOSOME | 14 |
ENSEMBL ID | ENSG00000015133 |
ENTREZ ID | 440193 |
UNIPROT ACCESSION NUMBER | Q9P219 |
GO MOLECULAR FUNCTION | dynein light intermediate chain binding; G-protein alpha-subunit binding; protein binding; identical protein binding; PDZ domain binding; guanyl-nucleotide exchange factor activity; frizzled binding; protein self-association; microtubule binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-162582; R-HSA-195721; R-HSA-201681; R-HSA-5368598 |
1 combination linked to CCDC88C | OLI844 |
1 variant linked to CCDC88C | CCDC88C:c.3895C>T, p.Arg1299Cys |
1 disease linked to CCDC88C | Kallmann syndrome |