GENE NAME | CCDC28B |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000160050 |
ENTREZ ID | 79140 |
UNIPROT ACCESSION NUMBER | Q9BUN5 |
GO MOLECULAR FUNCTION | protein binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
5 combinations linked to CCDC28B | OLI038; OLI041; OLI039; OLI037; OLI059 |
1 variant linked to CCDC28B | CCDC28B:c.430G>T, p.Asp144Tyr |
3 diseases linked to CCDC28B | Hirschsprung disease; Bardet-Biedl syndrome; Retinitis pigmentosa |