abnormal corneocyte envelope morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis; a monomolecular layer of ceramides is covalently attached to the outer surface of the CE to form a hydrophobic lipid envelope that covers each corneocyte and provides continuity with the lipid matrix (Mammalian Phenotype Ontology, MP_0009594)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009594
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8 gene mutations causing the abnormal corneocyte envelope morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
EVPL envoplakin
KRT1 keratin 1, type II
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
TMEM79 transmembrane protein 79
TRPV3 transient receptor potential cation channel, subfamily V, member 3