DISEASES

Disease-gene associations mined from literature

Literature associating KLHL17 and chromosome 1p36 deletion syndrome

KLHL17 [ENSP00000343930]

Kelch-like family member 17; Substrate-recognition component of some cullin-RING- based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in the actin-based neuronal function (By similarity); BTB domain containing

Synonyms:  KLHL17,  KLHL17p,  hKLHL17,  B3KXL7,  Q0VGE6 ...

Linkouts:  STRING  Pharos  UniProt