Glucosylceramide transporter ABCA12
Definition:
References:
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[1]. Susumu Mitsutake, et al. ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation. J Dermatol Sci. 2010 Nov;60(2):128-9. [Content Brief]
[2]. Masashi Akiyama, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest. 2005 Jul;115(7):1777-84. [Content Brief]
[3]. Anna C Thomas, et al. Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Am J Pathol. 2009 Mar;174(3):970-8. [Content Brief]