Details for Gene BSCL2

GENE NAME BSCL2
CHROMOSOME 11
ENSEMBL ID ENSG00000168000
ENTREZ ID 26580
UNIPROT ACCESSION NUMBER None
GO MOLECULAR FUNCTION phospholipid binding; protein binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
1 combination linked to BSCL2 OLI1147
1 variant linked to BSCL2 BSCL2:c.269C>T, p.Ser90Leu
1 disease linked to BSCL2 Hereditary spastic paraplegia

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