ALG12

Gene Name		ALG12, alpha-1,6-mannosyltransferase
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Endoplasmic Reticulum Endoplasmic Reticulum Membrane Membrane Integral Component Of Membrane
	Molecular Function	Alpha-1,6-mannosyltransferase Activity Mannosyltransferase Activity Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol Alpha-1,6-mannosyltransferase Activity
	Biological Process	Protein Folding Protein N-linked Glycosylation Dolichol-linked Oligosaccharide Biosynthetic Process Protein N-linked Glycosylation Via Asparagine Post-translational Protein Modification Cellular Protein Metabolic Process Mannosylation
Pathways		Defective ALG2 causes ALG2-CDG (CDG-1i) Diseases of glycosylation Defective ALG3 causes ALG3-CDG (CDG-1d) Post-translational protein modification Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) Defective MGAT2 causes MGAT2-CDG (CDG-2a) Defective ALG1 causes ALG1-CDG (CDG-1k) Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Defective MOGS causes MOGS-CDG (CDG-2b) Defective ALG6 causes ALG6-CDG (CDG-1c) Defective RFT1 causes RFT1-CDG (CDG-1n) Asparagine N-linked glycosylation Defective ALG8 causes ALG8-CDG (CDG-1h) Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective ALG9 causes ALG9-CDG (CDG-1l) Defective MAN1B1 causes MRT15 Defective MPDU1 causes MPDU1-CDG (CDG-1f) Defective ALG12 causes ALG12-CDG (CDG-1g) Diseases associated with N-glycosylation of proteins Defective ALG11 causes ALG11-CDG (CDG-1p)
Drugs
Diseases
GWAS
Protein-protein Interactions		2 interactors: PRDX4 RPL13A
Entrez ID		79087
HPRD ID		06189
Ensembl ID
Uniprot IDs		Q9BV10
PDB IDs
Enriched GO Terms of Interacting Partners?		Negative Regulation Of Formation Of Translation Preinitiation Complex Negative Regulation Of Male Germ Cell Proliferation Regulation Of Male Germ Cell Proliferation Protein Maturation By Protein Folding I-kappaB Phosphorylation Negative Regulation Of Translational Initiation 4-hydroxyproline Metabolic Process
Tagcloud ?		bones cardiomyopathy cdg cdgs dislocations dolichol dysplasia dysplasias equinovarus exome frameshifts glycosylation hypoplasia ig infant knees neurodevelopmental oligosaccharides ossification platyspondyly pseudodiastrophic pubic resembles rhizomelic stature talipes underossification undiagnosed vertebrae