Details for Gene CEP104

GENE NAME CEP104
CHROMOSOME 1
ENSEMBL ID ENSG00000116198
ENTREZ ID 9731
UNIPROT ACCESSION NUMBER O60308
GO MOLECULAR FUNCTION glutamate binding; glycine binding; protein binding; thienylcyclohexylpiperidine binding
ESSENTIAL IN MOUSE None
PATHWAYS
1 combination linked to CEP104 OLI983
1 variant linked to CEP104 CEP104:c.52G>A, p.Gly18Ser
1 disease linked to CEP104 Overgrowth or tall stature syndrome with skeletal involvement

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