|
Gene | Description | Disease | Function | Signs/Symptoms | Tissue Expression |
|
SLC39A4 | Solute Carrier Family 39 Member 4 | Acrodermatitis enteropathica | Encodes for a ZIP family. Required for zinc uptake in the intestine. | Growth retardation, immune-system dysfunction, alopecia, diarrhea, dermatitis. | Mostly Lungs and intestine. Overexpressed in small intestine, fetal gut and CD8 Tcells.
|
|
TSTA3 | Tissue Specific Transplantation Antigen P35B
| Leukocyte adhesion deficiency, type II | Catalyzes the reactions epimerase and reductase in GDP-D-mannose. | Infections, persistent leukocytosis, mental and growth retardation. | Esophagus, stomach and pancreas. Overexpressed in oral epithelium and breast |
|
SCRIB | Scribbled Planar Cell Polarity Protein | Neural tube defects. Tick-Borne Encephalitis. | Regulates epithelial and neuronal morphogenesis. | Cleft lip, myelocystocele, urinary incontinence, hydrocephalus and lipomas. | Intestine, Ovary and Testis. Overexpressed in pancreas. |
|
GPAA1 | Glycosylphosphatidylinositol Anchor Attachment | N/A | Links proteins to cell surface membrane. | N/A | Nervous system, skin, lungs. Overexpressed in Nasal epithelium. |
|
CYC1 | Cytochrome C1 | Mitochondrial complex III deficiency | Mediates the transfer of electron from Rieske iron sulphur protein to cytochrome. | Lactic acidosis, infection, insulin-responsive hyperglycemia and ketoacidosis. | Lungs, Skin, Nervous system. Overexpressed in heart. |
|
RECQL4 | RecQ Like Helicase 4 | Baller-Gerold Syndrome. RAPADILINO Syndrome. | DNA helicases unwind double stranded DNAs and may modulate chromosome segregation. | Fusion of bones (neonates), slow growth, missing/malformed kneecaps. | Ubiquitously expressed. Overexpressed in Testis and Thymus. |
|
EXOSC4 | Exosome Component 4 | N/A | Participates in cellular RNA processing and degradation. | N/A | Skin. Overexpressed in whole blood, testis and breast. |
|