DISEASES

Disease-gene associations mined from literature

Literature associating ASB18 and Kleefstra syndrome 1

ASB18 [ENSP00000386532]

Ankyrin repeat and SOCS box protein 18; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family.

Synonyms:  ASB18,  ASB18p,  hASB18,  C9JFL4,  H7C3E8 ...

Linkouts:  STRING  Pharos  UniProt