ALG8 ALG8 alpha-1,3-glucosyltransferase

Gene ID: 79053, updated on 3-Apr-2024
Gene type: protein coding
Also known as: CDG1H; PCLD3

Summary

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 been 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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
ALG8 congenital disorder of glycosylation MedGen: C2931002OMIM: 608104GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	See labs
Polycystic liver disease 3 with or without kidney cysts MedGen: C4693472OMIM: 617874GeneReviews: Not available	See labs

Genomic context

Location:: 11q14.1

Sequence:: Chromosome: 11; NC_000011.10 (78100946..78139626, complement)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ALG8 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ALG8 database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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