Uromodulin-like 1 (UMODL1)

Uromodulin-like 1 (UMODL1), also known as olfactorin, is a calcium-dependent membrane-bound extracellular matrix protein carrying EGF-like, WAP, and FNIII domains[2][3][4]. It is expressed during the development of the olfactory system and along the migratory route of hypothalamic gonadotropin-releasing hormone (GnRH) neurons[2][4]. UMODL1 shares functional and structural similarity with anosmin-1 and is implicated in axonal guidance, neuronal migration, and proper connectivity of GnRH and olfactory neurons. Its deficiency in animal models leads to abnormal development of these neurons, reproductive defects, and altered immune response[2][3][4]. Location on chromosome 21 suggests potential linkage to Down syndrome phenotypes, though its precise disease mechanisms in humans remain under study[2]. UMODL1 is under experimental investigation as a candidate gene in Kallmann syndrome, with no approved drugs targeting it and unknown baseline safety profiles for clinical exploitation.

Other names

Uromodulin-like 1UMODL1Olfactorinolfactorinuromodulin-like 1