DISEASES

Disease-gene associations mined from literature

Literature associating FBL and lipid storage disease

FBL [ENSP00000221801]

rRNA 2'-O-methyltransferase fibrillarin; S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus; Belongs to the methyltransferase superfamily. Fibrillarin family.

Synonyms:  FBL,  B4DLD4,  FBL-001,  FBL-002,  FBL-003 ...

Linkouts:  STRING  Pharos  UniProt