ABCA12 transports lipids from cytosol to extracellular region

Stable Identifier
R-HSA-5682285
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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ATP-binding cassette sub-family A member 12 (ABCA12) is thought to function as an epidermal keratinocyte lipid transporter. Lipids such as glucosylceramides and gangliosides form extracellular lipid layers in the stratum corneum of the epidermis, essential for skin barrier function (Akiyama et al. 2005). Mutations in ABCA12 can cause autosomal recessive congenital ichthyoses (ARCI).

Literature References
PubMed ID Title Journal Year
16007253 Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

Akiyama, M, Sugiyama-Nakagiri, Y, Sakai, K, McMillan, JR, Goto, M, Arita, K, Tsuji-Abe, Y, Tabata, N, Matsuoka, K, Sasaki, R, Sawamura, D, Shimizu, H

J. Clin. Invest. 2005
Participants
Participates
Catalyst Activity

lipid transporter activity of ABCA12 [plasma membrane]

Orthologous Events
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