NHL repeat-containing protein 2 (NHLRC2)

NHL repeat-containing protein 2 (NHLRC2) is a universally conserved, cytosolic protein of ~726 amino acids, encoded by the NHLRC2 gene on chromosome 10q25.3[1][2][3]. NHLRC2 is characterized by an N-terminal thioredoxin-like (Trx-like) domain, a six-bladed NHL-repeat β-propeller domain, and a C-terminal β-stranded region[2][3]. While its precise molecular function remains unresolved, structural and expression studies suggest a role in protein-protein interactions or as a regulatory scaffold within the cytoskeleton, potentially related to apoptosis inhibition[1][2][3][4]. Biallelic mutations in NHLRC2 cause FINCA disease, typified by progressive multiorgan fibrosis, neurodegeneration, and vascular changes, and are associated with pathological alteration of cell morphology and organization[2][3][4]. NHLRC2 is not established as a therapeutic target or a drug-interacting molecule, and no validated biomarkers or safety issues arise from its pharmacological manipulation, although genetic deficiency results in fatal disease in early life[2][3][4][5].

Other names

NHLRC2FLJ25621FLJ20147FLJ33312MGC45492DKFZp779F115FINCA1200003G01RikNovel NHL repeat domain containing proteinNHL repeat-containing protein 2

None established (no drugs; mechanistic data suggest potential scaffold or redox/passive roles, not targeted pharmacologically)