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 |