DISEASES

Disease-gene associations mined from literature

Literature associating LAS1L and Werdnig-Hoffmann disease

LAS1L [ENSP00000363944]

Ribosomal biogenesis protein LAS1L; Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA. Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes.

Synonyms:  LAS1L,  LAS1Lp,  hLAS1L,  B3KNR6,  B3KUJ7 ...

Linkouts:  STRING  Pharos  UniProt