MFSD6 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	AKAP19	A-kinase anchoring protein 19
Novel	ANKAR	ankyrin and armadillo repeat containing
Novel	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	Branched-chain amino acid catabolism 3-hydroxyisobutyryl-CoA hydrolase deficiency	Quercetin	Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
Novel	MSTN	myostatin	FOXO-mediated transcription of cell cycle genes	Stamulumab
Novel	OSGEPL1	O-sialoglycoprotein endopeptidase like 1	tRNA modification in the mitochondrion
Novel	STAT1	signal transducer and activator of transcription 1	Interleukin-6 signaling ISG15 antiviral mechanism Signaling by SCF-KIT Signaling by cytosolic FGFR1 fusion mutants Downstream signal transduction Interleukin-4 and Interleukin-13 signaling Interleukin-20 family signaling Regulation of RUNX2 expression and activity Interleukin-35 Signalling Interleukin-9 signaling NOTCH3 Intracellular Domain Regulates Transcription NOTCH3 Intracellular Domain Regulates Transcription Interleukin-27 signaling Interleukin-21 signaling Interferon alpha/beta signaling Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants Signaling by CSF3 (G-CSF) Signaling by CSF1 (M-CSF) in myeloid cells Inactivation of CSF3 (G-CSF) signaling SARS-CoV-2 activates/modulates innate and adaptive immune responses Signaling by ALK fusions and activated point mutants Growth hormone receptor signaling PKR-mediated signaling Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells Regulation of PD-L1(CD274) transcription		Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF) IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency; IL-12 receptor (IL-12R) beta1 chain deficiency; IFN-gamma receptor (IFN gamma R) alpha chain deficiency; IFN-gamma receptor (IFN gamma R) beta chain deficiency; STAT-1 deficiency
Novel	WDR75	WD repeat domain 75	rRNA modification in the nucleus and cytosol Major pathway of rRNA processing in the nucleolus and cytosol
	ADIPOQ	adiponectin, C1Q and collagen domain containing	AMPK inhibits chREBP transcriptional activation activity Transcriptional regulation of white adipocyte differentiation MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis		Adiponectin deficiency
	ALG8	ALG8 alpha-1,3-glucosyltransferase	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective ALG8 causes CDG-1h		Congenital disorders of glycosylation (CDG) type I
	APH1A	aph-1A gamma-secretase subunit	Nuclear signaling by ERBB4 Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus EPH-ephrin mediated repulsion of cells NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3 Amyloid fiber formation TGFBR3 PTM regulation	E-2012 MK-0752
	APOL3	apolipoprotein L3
	AQP7	aquaporin 7	Transport of glycerol from adipocytes to the liver by Aquaporins Passive transport by Aquaporins
	C19orf18	chromosome 19 open reading frame 18
	CD79A	CD79a molecule	CD22 mediated BCR regulation Potential therapeutics for SARS Antigen activates B Cell Receptor (BCR) leading to generation of second messengers Antigen activates B Cell Receptor (BCR) leading to generation of second messengers		Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8
	CYB5R3	cytochrome b5 reductase 3	Vitamin C (ascorbate) metabolism Phase I - Functionalization of compounds Neutrophil degranulation	NADH Flavin adenine dinucleotide Copper	Methemoglobinemia
	EBP	EBP cholestenol delta-isomerase	Cholesterol biosynthesis via desmosterol Cholesterol biosynthesis via lathosterol	Tamoxifen
	ERGIC3	ERGIC and golgi 3
	FAM209A	family with sequence similarity 209 member A
	GJA8	gap junction protein alpha 8	Gap junction assembly
	GJB2	gap junction protein beta 2	Oligomerization of connexins into connexons Transport of connexins along the secretory pathway Gap junction assembly Transport of connexons to the plasma membrane		Deafness, autosomal recessive Keratitis-ichthyosis-deafness syndrome Vohwinkel syndrome, including: Vohwinkel syndrome (VS); Vohwinkel syndrome with ichthyosis Deafness, autosomal dominant Palmoplantar keratoderma with deafness

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