DISEASES

Disease-gene associations mined from literature

Literature associating UXT and X-linked properdin deficiency

UXT [ENSP00000337393]

Ubiquitously-expressed, prefoldin-like chaperone; Involved in gene transcription regulation. Acts in concert with the corepressor URI1 to regulate androgen receptor AR-mediated transcription. Together with URI1, associates with chromatin to the NKX3-1 promoter region. Negatively regulates the transcriptional activity of the estrogen receptor ESR1 by inducing its translocation into the cytoplasm. May act as nuclear chaperone that facilitates the formation of the NF-kappa-B enhanceosome and thus positively regulates NF-kappa-B transcription activity. Potential component of mitochondrial-associated LRPPRC, a multidomain organizer that potentially integrates mitochondria and the microtubular cytoskeleton with chromosome remodeling. Increasing concentrations of UXT contributes to progressive aggregation of mitochondria and cell death potentially through its association with LRPPRC. Suppresses cell transformation and it might mediate this function by interaction and inhibition of the biological activity of cell proliferation and survival stimulatory factors like MECOM.

Synonyms:  UXT,  Q9UBK9,  S4R2Z4,  HSPC024,  Q9UBK9p ...

Linkouts:  STRING  Pharos  UniProt  OMIM