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 |