Alg6 Gene Search Result

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3 records found for search term Alg6

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1318803	ALG6	ALG6 alpha-1,3-glucosyltransferase	This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated ... (more) with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]	1	63367627	63438553	Human	172	symbol , old_gene_name , COSMIC , name , description , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
730884	ABO	ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase	This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-25 ... (more) 8 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]	9	133250401	133275201	Human	100	GenBank Protein	gene, protein-coding, REVIEWED [RefSeq]
1313512	ALG8	ALG8 alpha-1,3-glucosyltransferase	This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have bee ... (more) n associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	11	78100946	78139626	Human	262	description	gene, protein-coding, REVIEWED [RefSeq]