A more plausible role of Rbm24 in human disease is its ability to promote U1 snRNP recognition of the mutated, but not the wild-type 5’ splicing site of IKBKAP gene (inhibitor of κ light polypeptide gene enhancer in B cells, kinase complex-associated protein) in familial dysautonomia (FD), an autosomal recessive disease [44]. The gene discussed is ELP1; the disease is Fabry disease.