impaired skin barrier function Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description impaired ability of the skin to regulate water loss; frequently leads to dehydration (Mammalian Phenotype Ontology, MP_0002796)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002796
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Genes

47 gene mutations causing the impaired skin barrier function phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABHD5 abhydrolase domain containing 5
ALOX12 arachidonate 12-lipoxygenase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
CASP14 caspase 14, apoptosis-related cysteine peptidase
CD44 CD44 molecule (Indian blood group)
CERS3 ceramide synthase 3
CHUK conserved helix-loop-helix ubiquitous kinase
CLDN1 claudin 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DGAT2 diacylglycerol O-acyltransferase 2
DSC1 desmocollin 1
ELOVL1 ELOVL fatty acid elongase 1
ELOVL3 ELOVL fatty acid elongase 3
ELOVL4 ELOVL fatty acid elongase 4
FABP5 fatty acid binding protein 5 (psoriasis-associated)
FLG filaggrin
GJA1 gap junction protein, alpha 1, 43kDa
GRHL3 grainyhead-like 3 (Drosophila)
JUP junction plakoglobin
KDF1 keratinocyte differentiation factor 1
KLF4 Kruppel-like factor 4 (gut)
KRT1 keratin 1, type II
KRT16 keratin 16, type I
LOR loricrin
NSMAF neutral sphingomyelinase (N-SMase) activation associated factor
OVOL1 ovo-like zinc finger 1
PRSS8 protease, serine, 8
PTGES3 prostaglandin E synthase 3 (cytosolic)
RARG retinoic acid receptor, gamma
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
SAV1 salvador family WW domain containing protein 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SFN stratifin
SGPP1 sphingosine-1-phosphate phosphatase 1
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
TGM1 transglutaminase 1
TGM3 transglutaminase 3
TMEM79 transmembrane protein 79
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TP63 tumor protein p63