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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 with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008] See more...
Aliases for ALG6 Gene
Aliases for ALG6 Gene
- ALG6 Alpha-1,3-Glucosyltransferase 2 3 5
- Asparagine-Linked Glycosylation 6 Homolog (Yeast, Alpha-1,3-Glucosyltransferase) 2 3
- Dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-Dolichol Alpha- 1->3-Glucosyltransferase 2 3
- Dolichyl Pyrophosphate Man9GlcNAc2 Alpha-1,3-Glucosyltransferase 3 4
- Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol Alpha-1,3-Glucosyltransferase 3 4
- Dolichyl-P-Glc:Man9GlcNAc2-PP-Dolichyl Glucosyltransferase 3 4
- Asparagine-Linked Glycosylation Protein 6 Homolog 3 4
- Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog (S. Cerevisiae) 2
- Asparagine-Linked Glycosylation 6 Homolog (S. Cerevisiae, Alpha-1,3-Glucosyltransferase) 3
- Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog 3
- Dolichyl-P-Glc:Man9GlcNAc2-PP-Dolichylglucosyltransferase 3
- Man(9)GlcNAc(2)-PP-Dol Alpha-1,3-Glucosyltransferase 3
- EC 2.4.1.267 4
- EC 2.4.1 51
- CDG1C 3
- ALG6 5
External Ids for ALG6 Gene
- HGNC: 23157
- Entrez Gene: 29929
- Ensembl: ENSG00000088035
- OMIM: 604566
- UniProtKB: Q9Y672
Previous GeneCards Identifiers for ALG6 Gene
- GC01P063768
- GC01P062756
- GC01P063191
- GC01P063203
- GC01P063545
- GC01P063605
- GC01P063834
- GC01P061941
Summaries for ALG6 Gene
-
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 with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
GeneCards Summary for ALG6 Gene
ALG6 (ALG6 Alpha-1,3-Glucosyltransferase) is a Protein Coding gene. Diseases associated with ALG6 include Congenital Disorder Of Glycosylation, Type Ic and Protein-Losing Enteropathy. Among its related pathways are GPCRs, Other and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and glucosyltransferase activity. An important paralog of this gene is ALG8.
UniProtKB/Swiss-Prot Summary for ALG6 Gene
-
Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.
Additional gene information for ALG6 Gene
- HGNC(23157)
- Entrez Gene(29929)
- Ensembl(ENSG00000088035)
- OMIM(604566)
- UniProtKB(Q9Y672)
- Open Targets Platform(ENSG00000088035)
- Monarch Initiative
- Search for ALG6 at DataMed
- Search for ALG6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALG6 Gene
Genomics for ALG6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ALG6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ALG6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALG6
- Top Transcription factor binding sites by QIAGEN in the ALG6 gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- IRF-7A
- Nkx2-5
- POU3F2
- TBP
Genomic Locations for ALG6 Gene
Genomic Locations for ALG6 Gene
- chr1:63,367,575-63,438,553
- (GRCh38/hg38)
- Size:
- 70,979 bases
- Orientation:
- Plus strand
- chr1:63,833,261-63,904,233
- (GRCh37/hg19)
- Size:
- 70,973 bases
- Orientation:
- Plus strand
Genomic View for ALG6 Gene
Genes around ALG6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p31.3 by HGNC
- 1p31.3 by Entrez Gene
- 1p31.3 by Ensembl
ALG6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ALG6 Gene
Proteins for ALG6 Gene
-
Protein details for ALG6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y672-ALG6_HUMAN
- Recommended name:
- Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
- Protein Accession:
- Q9Y672
- B3KMU2
- Q5SXR9
- Q9H3I0
Protein attributes for ALG6 Gene
- Size:
- 507 amino acids
- Molecular mass:
- 58121 Da
- Quaternary structure:
- No Data Available
Protein Expression for ALG6 Gene
Selected DME Specific Peptides for ALG6 Gene
- Q9Y672:
-
- HKLFMRTTV
- ADLLIYIPAV
- GHFQYNSVSLGFALWGVL
- TLVSCALSFFLFSFQVHEKSILLVS
- TWFLLVSTFSMLPLLLKD
- DRGLFEDKVANIWCS
- SYSGAGKPPM
- KPPMFGDYEAQRHW
- NYKQMELYH
- LTVRWTVSL
Post-translational modifications for ALG6 Gene
Other Protein References for ALG6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ALG6
-
Abcam antibodies for ALG6
- Invitrogen Antibodies for ALG6 (AFLGC-ALG6)
-
Biorbyt antibodies for ALG6
-
Boster Bio Antibodies for ALG6
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALG6
Protein Products
-
OriGene Purified Proteins for ALG6
- Search Origene for MassSpec and Protein Over-expression Lysates for ALG6
- Origene Custom Protein Services for ALG6
- antibodies-online: Show 3 available ALG6 Proteins ranked by validation data
- Compare Top ALG6 Proteins
-
Quality Products:
-
Abcam proteins for ALG6
Domains & Families for ALG6 Gene
Gene Families for ALG6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
Protein Domains for ALG6 Gene
- InterPro:
- Blocks:
-
- ALG6, ALG8 glycosyltransferase
- ProtoNet:
Suggested Antigen Peptide Sequences for ALG6 Gene
- GenScript: Design optimal peptide antigens:
-
- Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase (ALG6_HUMAN)
- cDNA FLJ57111, highly similar to Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC 2.4.1.-) (B4DHV8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y672- Family:
-
- Belongs to the ALG6/ALG8 glucosyltransferase family.
Function for ALG6 Gene
Molecular function for ALG6 Gene
- UniProtKB/Swiss-Prot Function:
- Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol + dolichyl beta-D-glucosyl phosphate = alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol + dolichyl phosphate + H(+); Xref=Rhea:RHEA:30635, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9528, Rhea:RHEA-COMP:12631, Rhea:RHEA-COMP:12632, ChEBI:CHEBI:15378, ChEBI:CHEBI:57525, ChEBI:CHEBI:57683, ChEBI:CHEBI:132520, ChEBI:CHEBI:132521; EC=2.4.1.267;.
Enzyme Numbers (IUBMB) for ALG6 Gene
Phenotypes From GWAS Catalog for ALG6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004583 | dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0016758 | transferase activity, transferring hexosyl groups | IEA | -- |
| GO:0042281 | dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity | IEA,IBA | 21873635 |
Phenotypes for ALG6 Gene
- MGI mutant phenotypes for ALG6:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ALG6:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALG6 - Select products 50% OFF >
- * ALG6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALG6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALG6
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALG6
miRNA for ALG6 Gene
- miRTarBase miRNAs that target ALG6
-
- mmu-miR-669f-3p (MIRT584899)
- mmu-miR-539-3p (MIRT584900)
- mmu-miR-381-3p (MIRT584901)
- mmu-miR-669m-3p (MIRT584902)
- mmu-miR-466n-3p (MIRT584903)
- mmu-miR-467g (MIRT584904)
- mmu-miR-297b-3p (MIRT584905)
- mmu-miR-466e-3p (MIRT584906)
- mmu-miR-466a-3p (MIRT584907)
- mmu-miR-466d-3p (MIRT584908)
- mmu-miR-1192 (MIRT590693)
- mmu-miR-495-3p (MIRT590694)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALG6
- Browse OriGene Inhibitory RNA Products For ALG6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG6
Clone Products
- Applied Biological Materials (abm): Clones for ALG6 - Select products 50% OFF >
- * ALG6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ALG6
- Addgene plasmids for ALG6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALG6
Cell Line Products
-
Horizon Cell Lines for ALG6
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ALG6 Gene
Localization for ALG6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ALG6 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| plasma membrane | 3 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA,TAS | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for ALG6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | N-Glycan biosynthesis | ||
| 2 | Metabolism of proteins | ||
| 3 | Metabolism | ||
| 4 | Transport to the Golgi and subsequent modification | ||
| 5 | Synthesis of substrates in N-glycan biosythesis | ||
Pathways by source for ALG6 Gene
2 BioSystems pathways for ALG6 Gene
2 KEGG pathways for ALG6 Gene
UniProtKB/Swiss-Prot Q9Y672-ALG6_HUMAN
- Pathway: Protein modification; protein glycosylation.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0006487 | protein N-linked glycosylation | IDA | 10924277 |
| GO:0006488 | dolichol-linked oligosaccharide biosynthetic process | IEA,TAS | -- |
| GO:0006490 | oligosaccharide-lipid intermediate biosynthetic process | IBA | 21873635 |
No data available for SIGNOR curated interactions for ALG6 Gene
Drugs & Compounds for ALG6 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Dolichol-20 |
|
2067-66-5 |
|
|||
| Dolichyl b-D-glucosyl phosphate |
|
220496-27-5 |
|
Transcripts for ALG6 Gene
mRNA/cDNA for ALG6 Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000647818 1841 nts (view in UCSC)
- ENST00000603108 2055 nts (view in UCSC)
- ENST00000648964 1887 nts (view in UCSC)
- ENST00000650469 578 nts (view in UCSC)
- ENST00000650494 1422 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALG6 - Select products 50% OFF >
- * ALG6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALG6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALG6
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALG6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALG6
- Browse OriGene Inhibitory RNA Products For ALG6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG6
Clone Products
- Applied Biological Materials (abm): Clones for ALG6 - Select products 50% OFF >
- * ALG6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ALG6
- Addgene plasmids for ALG6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALG6
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP5: |
Relevant External Links for ALG6 Gene
- GeneLoc Exon Structure for
- ALG6
Expression for ALG6 Gene
This gene is overexpressed in Nasal epithelium (51.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALG6 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALG6
SOURCE GeneReport for Unigene cluster for ALG6 Gene:
Hs.258501Evidence on tissue expression from TISSUES for ALG6 Gene
- Nervous system(4.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG6 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- head
Thorax:
- chest wall
- heart
Abdomen:
- abdominal wall
- liver
General:
- blood
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for ALG6
-
OriGene qPCR primer pairs and template standards for ALG6
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ALG6 Gene
Orthologs for ALG6 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ALG6 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ALG6 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ALG6 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Alg6 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Alg6 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ALG6 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ALG6 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ALG6 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ALG6 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | alg6 30 |
|
||
| Str.8942 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2739 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | alg6 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | gny 30 31 |
|
OneToOne | |
| CG5091 32 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008946 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | C08B11.8 30 31 32 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D01221g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALG6 30 31 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACR004W 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G38460 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | alg6 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU03317 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for ALG6 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ALG6 Gene
- ENSEMBL:
- Gene Tree for ALG6 (if available)
- TreeFam:
- Gene Tree for ALG6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ALG6: view image
Paralogs for ALG6 Gene
Variants for ALG6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALG6 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640169 | Uncertain Significance: Congenital disorder of glycosylation type 1C | 63,411,322(+) | A/G | MISSENSE_VARIANT | |
| 644709 | Pathogenic: Congenital disorder of glycosylation type 1C | 63,419,380(+) | C/CG | FRAMESHIFT_VARIANT | |
| 651010 | Pathogenic: Congenital disorder of glycosylation type 1C | 63,396,573(+) | CTT/C | NONSENSE | |
| 676676 | Likely Benign: not provided | 63,367,655(+) | A/AGGCGCGAATCCCA | FIVE_PRIME_UTR_VARIANT | |
| 682384 | Likely Benign: not provided | 63,407,141(+) | T/C | INTRON_VARIANT |
Residual Variation Intolerance Score:
73.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.53;
55.65% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ALG6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG6 Gene
Disorders for ALG6 Gene
(15) MalaCards diseases for ALG6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital disorder of glycosylation, type ic |
|
|
| protein-losing enteropathy |
|
|
| congenital disorder of glycosylation, type in |
|
|
| congenital disorder of glycosylation, type ie |
|
|
| immunodeficiency 47 |
|
|
Search ALG6 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ALG6_HUMAN- Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: 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. {ECO:0000269 PubMed:10359825, ECO:0000269 PubMed:10914684, ECO:0000269 PubMed:10924277, ECO:0000269 PubMed:11106564, ECO:0000269 PubMed:11134235, ECO:0000269 PubMed:12357336, ECO:0000269 PubMed:14517965}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ALG6
No data available for Genatlas for ALG6 Gene
Publications for ALG6 Gene
- A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. (PMID: 10359825) Imbach T … Hennet T (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23
- DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PMID: 12357336) Schollen E … Matthijs G (European journal of human genetics : EJHG 2002) 3 4 23
- A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. (PMID: 11875054) Westphal V … Freeze HH (Human molecular genetics 2002) 2 3 4
- The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic. (PMID: 11558905) Vuillaumier-Barrot S … Seta N (Journal of human genetics 2001) 3 4 23
- Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. (PMID: 11106564) Westphal V … Freeze HH (The American journal of pathology 2000) 3 4 23
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