Avtor/Urednik		Godič, Aleksandar; Glavač, Damjan; Korošec, Branka; Miljković, Jovan; Potočnik, Marko; Kansky, Aleksej
Naslov		P160L mutation in the Ca2+ ATPase 2A domain in a patient with severe Darier disease
Tip		članek
Vir		Dermatology
Vol. in št.		Letnik 209
Leto izdaje		2004
Obseg		str. 142-4
Jezik		eng
Abstrakt		Darier disease (DD) is caused by mutations of the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2). The mutations affect protein expression, degradation and activity. We report a patient with severe sporadic DD, who did not respond adequately to repeated courses of orally administered acitretin and isotretinoin. He was found to harbor the missense P160L mutation of the ATP2A2 gene in a heterozygous state in the A domain of SERCA2 and polymorphism in intron 18 (2741 + 54 G --> A). The A domain plays a key role in translocation of Ca(2+) from cytoplasm to endoplasmic reticulum lumen, thus establishing a low intracellular Ca(2+) concentration.
Deskriptorji		KERATOSIS FOLLICULARIS CA(2+)-TRANSPORTING ATPASE POLYMORPHISM (GENETICS) MUTATION ADULT