DISEASES

Disease-gene associations mined from literature

Literature associating KLHL3 and distal arthrogryposis type 3

KLHL3 [ENSP00000312397]

Kelch-like family member 3; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron. The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation. The BCR(KLHL3) complex also mediates ubiquitination and degradation of CLDN8, a tight-junction protein required for paracellular chloride transport in the kidney (By similarity); BTB domain containing

Synonyms:  KLHL3,  KLHL3p,  hKLHL3,  D6R9K4,  D6RH21 ...

Linkouts:  STRING  Pharos  UniProt  OMIM