Details for Gene TULP3

GENE NAME TULP3
CHROMOSOME 12
ENSEMBL ID ENSG00000078246
ENTREZ ID 7289
UNIPROT ACCESSION NUMBER O75386
GO MOLECULAR FUNCTION intraciliary transport particle A binding; protein-containing complex binding; G protein-coupled receptor binding; protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-5358351; R-HSA-162582; R-HSA-5610787
2 combinations linked to TULP3 OLI687; OLI714
2 variants linked to TULP3 TULP3:c.1310G>C, p.Ser437Thr; TULP3:c.709G>T, p.Ala237Ser
2 diseases linked to TULP3 Isolated anencephaly; Holoprosencephaly

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