Entity Details

Primary name ALG3
Entity type gene
Source Source Link

Details

PrimaryID10195
RefseqGeneNG_008924
SymbolALG3
NameALG3 alpha-1,3- mannosyltransferase
Chromosome3
Location3q27.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-06-03
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsALG3_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000033 alpha-1,3-mannosyltransferase activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006486 protein glycosylation
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0016021 integral component of membrane
GO:0052925 dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity

Diseases

Show/Hide Table
Disease IDSourceNameDescription
601110 OMIMCongenital disorder of glycosylation 1D (CDG1D)A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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. The disease is caused by variants affecting the gene represented in this entry.