Table 8 Monogenic diseases due to mutations of genes involved in lipid metabolism and displaying an epidermal phenotype
From: Large-scale identification of human genes implicated in epidermal barrier function
Gene | Function | MIM/reference | Pathology |
|---|---|---|---|
ABCA12 | ABC lipid transporter | #242500 | Harlequin ichthyosis |
STS | Steroid sulfatase | +38100 | X-linked ichthyosis |
GBA | Glucocerebrosidase | #230800 | Gaucher disease |
ALOXE3/ALOXB12 | Arachidonate lipoxygenases | #242100 | Non-bullous congenital ichthyosiform erythroderma |
CGI58 (ABHD5) | Putative triglyceride lipase | [62] | Chanarin-Dorman syndrome |
LIPH | Phospholipase A1 | [63] | Hair growth defect |