Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East

Table 3

GeneMANIA presented the interacting partners with SLC39A4 gene. The databases GeneCards and MalaCards and the literature were reviewed to identify the function, disorder, and tissue expression. Note. The documented information only includes the main signs, symptoms, and tissue expression.

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.