DISEASES

Disease-gene associations mined from literature

Literature associating KLHL15 and Seckel syndrome 2

KLHL15 [ENSP00000332791]

Kelch-like protein 15; Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex . Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits . Acts as an adapter for CUL3 to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) .

Synonyms:  KLHL15,  KLHL15p,  hKLHL15,  HEL-S-305,  Q96M94 ...

Linkouts:  STRING  Pharos  UniProt