DISEASES

Disease-gene associations mined from literature

KCTD6 disease associations

KCTD6 [ENSP00000347188]

BTB/POZ domain-containing protein KCTD6; Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1; the function seems to depend on KCTD11:KCTD6 oligomerization. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) . Involved in regulating protein levels of ANK1 isoform Mu17 probably implicating CUL3-dependent proteasomal degradation .

Synonyms:  KCTD6,  KCTD6p,  hKCTD6,  A0A1D5RMQ6,  F5H7I0 ...

Linkouts:  STRING  Pharos  UniProt