abnormal stratum corneum lipid matrix formation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description altered lipid composition or intercellular lipid matrix assembly in the stratum corneum, usually resulting in loss of epidermal barrier function; normally, the intercorneocyte lipid matrix consists of a complex lipid mixture of ceramides, cholesterol and long-chain saturated fatty acids that self-assembles into an ordered multilayer structure known as lipid lamellae (Mammalian Phenotype Ontology, MP_0009596)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009596
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Genes

3 gene mutations causing the abnormal stratum corneum lipid matrix formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CERS3 ceramide synthase 3
PPARD peroxisome proliferator-activated receptor delta
ST14 suppression of tumorigenicity 14 (colon carcinoma)