EPG5 Polyclonal Antibody, 50ul[BT-AP15409] Pathway and Network Analysis Mutations in this gene have

Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome

Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia

other aliphatic alcohols

HNRNPA1 encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs)

EPG5 Polyclonal Antibody, 50ul[BT-AP15409] Pathway and Network Analysis Mutations in this gene haveThis gene encodes a large coiled coil domain containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome.