Expanding the ADCY5 phenotype toward spastic paraparesis
نویسندگان
چکیده
The ADCY5 gene encodes 1 of 9 membrane-bound adenyl cyclases converting adenosine triphosphate to cyclic adenosine-39, 59-monophosphate, the second messenger in a range of cellular activities. The ADCY5 protein contains 2 transmembrane domains, M1 and M2, and 2 bipartite cytoplasmic domains, C1 and C2. Pathogenic mutations have been described in domains C1 and C2. Mutations are likely to have a gain-of-function effect based on increased cyclic adenosine-39, 59-monophosphate accumulation.
منابع مشابه
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