DISEASES

Disease-gene associations mined from literature

Literature associating KLHL40 and nemaline myopathy 8

KLHL40 [ENSP00000287777]

Kelch repeat and BTB domain-containing protein 5; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development. The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity).

Synonyms:  KLHL40,  KLHL40p,  hKLHL40,  Q2TBA0,  KBTBD5 ...

Linkouts:  STRING  Pharos  UniProt