Details for Gene HS1BP3

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

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