MTMR7

The protein is a lipid phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate, regulating cellular membrane trafficking and signaling pathways. Mutations cause autosomal recessive Charcot-Marie-Tooth disease type 4K, a hereditary motor and sensory neuropathy affecting the peripheral nervous system. The gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.