Details for Gene CCDC88C

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

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