DISEASES

Disease-gene associations mined from literature

Literature associating LBR and primary biliary cholangitis

LBR [ENSP00000339883]

Delta(14)-sterol reductase LBR; Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:9630650, PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (By similarity). Anchors the lamina and the heterochromatin to the inner nuclear membrane . ECO:0000269|PubMed:12618959, ECO:0000269|PubMed:16784888, ECO:0000269|PubMed:21327084, ECO:0000269|PubMed:27336722,

Synonyms:  LBR,  A0A494C1L1,  C9JES9,  C9JXK0,  Q14739 ...

Linkouts:  STRING  Pharos  UniProt