NP_001071159.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
51,743 Da
NCBI Official Full Name
alpha-1,2-mannosyltransferase ALG9 isoform c
NCBI Official Synonym Full Names
ALG9, alpha-1,2-mannosyltransferase
NCBI Protein Information
alpha-1,2-mannosyltransferase ALG9; asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase); asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase); asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog; asparagine-linked glycosylation protein 9 homolog; disrupted in bipolar affective disorder 1; disrupted in bipolar disorder protein 1; dol-P-Man dependent alpha-1,2-mannosyltransferase; dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase; dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase; loss of heterozygosity, 11, chromosomal region 1 gene J product
UniProt Protein Name
Alpha-1,2-mannosyltransferase ALG9
UniProt Synonym Protein Names
Asparagine-linked glycosylation protein 9 homolog; Disrupted in bipolar disorder protein 1; Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
UniProt Synonym Gene Names
UniProt Entry Name
ALG9_HUMAN
NCBI Summary for ALG9
This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
UniProt Comments for ALG9
ALG9: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides. A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder. Defects in ALG9 are the cause of congenital disorder of glycosylation type 1L (CDG1L). 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 22 family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; EC 2.4.1.261; EC 2.4.1.259; Glycan Metabolism - N-glycan biosynthesis; Membrane protein, integral; Transferase
Chromosomal Location of Human Ortholog: 11q23
Cellular Component: endoplasmic reticulum membrane; membrane; endoplasmic reticulum; integral to membrane
Molecular Function: mannosyltransferase activity
Biological Process: cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification
Disease: Congenital Disorder Of Glycosylation, Type Il
Research Articles on ALG9
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Pathways associated with anti-ALG9 antibody
Diseases associated with anti-ALG9 antibody
Organs/Tissues associated with anti-ALG9 antibody
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