..With SCAD deficiency, the challenge is to elucidate whether ACADS gene variations are disease-associated, especially when combined with other genetic/cellular/environmental factors, which may act synergistically. ..
Dollerup P, Thomsen T, Nejsum L, FÃ¦rch M, Ã–sterbrand M, Gregersen N, et al. Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel. BMC Nephrol. 2015;16:217 pubmed publisher
..The AQP2-R254W protein is thus unable to reach the plasma membrane to facilitate AVP mediated urine concentration. ..