Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B

Stable Identifier
R-HSA-5682294
Type
Pathway
Species
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
23954554 The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation

Akiyama, M

Biochim. Biophys. Acta 2014
20672373 ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts

Akiyama, M

Hum. Mutat. 2010
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
Participant Of
Disease
Name Identifier Synonyms
congenital ichthyosiform erythroderma 1699 lamellar ichthyosis, Ichthyosiform erythroderma, Alligator skin, nonbullous congenital ichthyosiform erythroderma, Congenital non bullous ichthyosiform erythroderma
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