GENE NAME | HS1BP3 |
CHROMOSOME | 2 |
ENSEMBL ID | ENSG00000118960 |
ENTREZ ID | 64342 |
UNIPROT ACCESSION NUMBER | Q53T59 |
GO MOLECULAR FUNCTION | phosphatidylinositol binding; protein binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
1 combination linked to HS1BP3 | OLI403 |
1 variant linked to HS1BP3 | HS1BP3:c.94G>T, p.Gly32Cys |
2 diseases linked to HS1BP3 | Parkinson disease; Benign essential blepharospasm |