How One Protein Can Kill: An Examination of Harlequin Ichthyosis

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Since the ABCA12 protein is either absent or non-functional in HI, there is little lipid transport in keratinized cells, thus there is only an extremely weak intercellular layer holding the stratum corneum together (Au 2007). In the last several years, research has pinpointed the ABCA12 mutation to chromosome 2 in region 35...
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The 2,595 amino acids and 53 coding exons that comprise the ABCA12 protein have been identified. Genetic studies have determined that harlequin ichthyosis is predominantly caused by homozygous mutations, indicating that an autosomal-recessive inheritance is responsible...
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