Disease-gene associations mined from literature

Literature associating PSMC3IP and autosomal recessive chronic granulomatous disease cytochrome b-positive type III

PSMC3IP [ENSP00000377384]

Proteasome 26S ATPase subunit 3-interacting protein; Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double-strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1- promoted homologous pairing. May inhibit HIV-1 viral protein TAT activity and modulate the activity of proteasomes through association with PSMC3. Acts as a tissue specific coactivator of hormone-dependent transcription mediated by nuclear receptors; Belongs to the HOP2 family.

Synonyms:  PSMC3IP,  PSMC3IPp,  hPSMC3IP,  A0A024R1U1,  A0A024R1W9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM