NP_149078.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
alpha-1,3/1,6-mannosyltransferase ALG2
NCBI Official Synonym Full Names
ALG2, alpha-1,3/1,6-mannosyltransferase
NCBI Protein Information
alpha-1,3/1,6-mannosyltransferase ALG2; homolog of yeast ALG2; alpha-1,3-mannosyltransferase ALG2; asparagine-linked glycosylation protein 2 homolog; GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase; GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog; asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase); asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)
UniProt Protein Name
Alpha-1,3/1,6-mannosyltransferase ALG2
UniProt Synonym Protein Names
Asparagine-linked glycosylation protein 2 homolog; GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase; GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
UniProt Entry Name
ALG2_HUMAN
NCBI Summary for ALG2
This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
UniProt Comments for ALG2
ALG2: Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)- dolichol diphosphate. Defects in ALG2 are the cause of congenital disorder of glycosylation type 1I (CDG1I). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transferase; EC 2.4.1.132; EC 2.4.1.257; Glycan Metabolism - N-glycan biosynthesis; Membrane protein, integral
Chromosomal Location of Human Ortholog: 9q22.33
Cellular Component: endoplasmic reticulum membrane; membrane; perinuclear region of cytoplasm; cytoplasm; integral to membrane; nucleus
Molecular Function: protein binding; glycolipid 3-alpha-mannosyltransferase activity; protein heterodimerization activity; glycolipid 6-alpha-mannosyltransferase activity; alpha-1,3-mannosyltransferase activity; protein N-terminus binding; calcium-dependent protein binding
Biological Process: protein amino acid glycosylation in endoplasmic reticulum; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein amino acid N-linked glycosylation via asparagine; response to calcium ion; post-translational protein modification
Disease: Congenital Disorder Of Glycosylation, Type Ii; Myasthenic Syndrome, Congenital, With Tubular Aggregates 3
Research Articles on ALG2
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Products associated with anti-ALG2 antibody
Pathways associated with anti-ALG2 antibody
Diseases associated with anti-ALG2 antibody
Organs/Tissues associated with anti-ALG2 antibody
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