Disease-gene associations mined from literature

Literature associating NMRAL1 and Kabuki syndrome

NMRAL1 [ENSP00000458762]

NmrA-like family domain-containing protein 1; Redox sensor protein. Undergoes restructuring and subcellular redistribution in response to changes in intracellular NADPH/NADP(+) levels. At low NADPH concentrations the protein is found mainly as a monomer, and binds argininosuccinate synthase (ASS1), the enzyme involved in nitric oxide synthesis. Association with ASS1 impairs its activity and reduces the production of nitric oxide, which subsecuently prevents apoptosis. Under normal NADPH concentrations, the protein is found as a dimer and hides the binding site for ASS1. The homodimer binds one molecule of NADPH. Has higher affinity for NADPH than for NADP(+). Binding to NADPH is necessary to form a stable dimer; Belongs to the NmrA-type oxidoreductase family.

Synonyms:  NMRAL1,  NMRAL1p,  hNMRAL1,  I3L0Y6,  I3L1Q7 ...

Linkouts:  STRING  Pharos  UniProt