Disease-gene associations mined from literature

Literature associating LCMT2 and autosomal recessive hypercholesterolemia

LCMT2 [ENSP00000307214]

tRNA(Phe) (7-(3-amino-3-(methoxycarbonyl)propyl)wyosine(37)-N)-methoxycarbonyltransferase; Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity). May methylate the carboxyl group of leucine residues to form alpha- leucine ester residues; Belongs to the methyltransferase superfamily. LCMT family.

Synonyms:  LCMT2,  LCMT2p,  hLCMT2,  B4DUW3,  H3BU01 ...

Linkouts:  STRING  Pharos  UniProt  OMIM