Reactome | ABCA12 transports lipids from cytosol to extracellular region

ABCA12 transports lipids from cytosol to extracellular region

Stable Identifier

R-HSA-5682285

Type

Reaction [transition]

Species

Homo sapiens

Compartment

cytosol, extracellular region, plasma membrane

ReviewStatus

5/5

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ABCA12 transports lipids from cytosol to extracellular region

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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 Matsuoka, K, Shimizu, H, Sugiyama-Nakagiri, Y, Tsuji-Abe, Y, Sasaki, R, Goto, M, Arita, K, Sakai, K, Akiyama, M, Tabata, N, McMillan, JR, Sawamura, D	J. Clin. Invest.	2005