ATP6V1E1 and cutis laxa: Various human diseases are linked to defects in genes encoding subunits of the v-ATPase, including connective tissue disorders (e.g. autosomal recessive (AR) cutis laxa (CL) syndrome type 2A (MIM: 219200) (ATP6V0A2 [MIM: 611716]), ARCL type 2C (MIM:617402) (ATP6V1E1 [MIM: 108746]), and ARCL type 2D (MIM:617403) (ATP6V1A [MIM: 607027])) [2–12].