GRPEL1 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	DSP	desmoplakin	Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization Formation of the cornified envelope	Zinc Artenimol Zinc acetate	Arrhythmogenic right ventricular cardiomyopathy (ARVC) Naxos disease and Carvajal syndrome Striate palmoplantar keratoderma Skin fragility-woolly hair syndrome Epidermolysis bullosa simplex, including: Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM); Epidermolysis bullosa simplex, Koebner type (EBS-K); Epidermolysis bullosa simplex, Weber-Cockayne type (EBS-WC); Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP); Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex, recessive; Epidermolysis bullosa, lethal acantholytic
Novel	FAM184B	family with sequence similarity 184 member B
Novel	FGFBP2	fibroblast growth factor binding protein 2	FGFR2b ligand binding and activation
Novel	MED28	mediator complex subunit 28	PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation
Novel	NKX3-2	NK3 homeobox 2	Regulation of RUNX2 expression and activity		Spondylo-megaepiphyseal-metaphyseal dysplasia
Novel	SFTPB	surfactant protein B	Surfactant metabolism Defective pro-SFTPB causes SMDP1 and RDS Defective CSF2RB causes SMDP5 Defective CSF2RA causes SMDP4		Pulmonary surfactant metabolism dysfunction (SMDP)
Novel	XYLB	xylulokinase	Formation of xylulose-5-phosphate
	CCDC57	coiled-coil domain containing 57
	ERCC6	ERCC excision repair 6, chromatin remodeling factor	ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER RNA Polymerase I Transcription Initiation		Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP); Cockayne syndrome (CS); UV-sensitive syndrome (UVS); Trichothiodystrophy (TTD); Cerebro-oculo-facio-skeletal syndrome (COFS); XFE progeroid syndrome Cockayne syndrome Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
	GALT	galactose-1-phosphate uridylyltransferase	Defective GALT can cause Galactosemia Galactose catabolism		Galactosemia
	POLR1C	RNA polymerase I and III subunit C	Cytosolic sensors of pathogen-associated DNA NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape RNA Polymerase III Chain Elongation RNA Polymerase I Transcription Termination RNA Polymerase III Transcription Termination RNA Polymerase III Abortive And Retractive Initiation RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter		Treacher Collins syndrome
	SPG21	SPG21 abhydrolase domain containing, maspardin			Hereditary spastic paraplegia (SPG)
	WBP2	WW domain binding protein 2

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