DISEASES

Disease-gene associations mined from literature

Literature associating LRRC48 and Potocki-Lupski syndrome

LRRC48 [ENSP00000382140]

Leucine-rich repeat-containing protein 48; Key component of the nexin-dynein regulatory complex (N- DRC), a key regulator of ciliary motility.

Synonyms:  LRRC48,  LRRC48p,  hLRRC48,  DRC3,  J3KRB8 ...

Linkouts:  STRING  Pharos  UniProt