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Defective ABCA12 causes ARCI4B

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5682294

PubChem

R-HSA-5682294

Description

ATP-binding cassette sub-family A member 12 (ABCA12) is thought to function as an epidermal keratinocyte lipid transporter. These lipids form extracellular lipid layers in the stratum corneum of the epidermis, essential for skin barrier function. Defects in ABCA12 results in the loss of the skin lipid barrier, leading to autosomal recessive congenital ichthyosis 4B (ARCI4B; MIM:242500, aka harlequin ichthyosis, HI). ARCI4B shows the most severe phenotype of the congenital ichthyoses, with newborns having a thick covering of armour-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures. Affected babies are often born prematurely and rarely survive the perinatal period (Akiyama et al. 2005, Akiyama 2010, 2014).

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SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
Q86UK0	Glucosylceramide transporter ABCA12	ABC12 ABCA12	view

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