GENE NAME | LRBA |
CHROMOSOME | 4 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000198589 |
UNIPROT ACCESSION NUMBER | P50851 |
GO MOLECULAR FUNCTION | ['molecular_function', 'protein kinase binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
3 combinations linked to LRBA | OLI1719; OLI025; OLI1713 |
3 variants linked to LRBA | LRBA:c.1570G>A, p.Gly524Ser; LRBA:p.Ile2744Thr; LRBA:p.Asn2364Ser |
2 diseases linked to LRBA | Common variable immunodeficiency; Primary hemophagocytic lymphohistiocytosis |