Mutations in TRPML3, TRPML3,A419P and TRPML3I362T/A419P are GOF mutations causing deafness and circling behavior in mice (Varitint-waddler mutants).1070., 1071., 1072., 1073., 1074. Equivalent mutations in the human isoform likewise result in strong GOF.1070. Here, MCOLN3 is linked to deafness.