ADAMTS19
ADAMTS19 is a secreted enzyme of the fibrillin-associated branch, defined largely by developmental genetics. Biallelic loss-of-function variants in ADAMTS19 cause isolated nonsyndromic cryptorchidism, the failure of testicular descent, providing one of the clearest examples of an ADAMTS gene linked to a specific urogenital phenotype. In mice, Adamts19 expression is detectable in heart valves and other tissues, and knockout studies add cardiovascular observations to the phenotype spectrum. The physiological substrate of ADAMTS19 has not been established, and recombinant ADAMTS19 serves research into urogenital development and extracellular-matrix remodeling. Sequence analysis shows a full complement of thrombospondin repeats and an intact catalytic site, although the natural substrates underlying the urogenital phenotype have not been identified.
