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 Homolog (S. Cerevisiae, Alpha-1,3-Glucosyltransferase) 3
  • Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog (S. Cerevisiae) 2
  • 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 52
  • CDG1C 3

External Ids for ALG6 Gene

Previous GeneCards Identifiers for ALG6 Gene

  • GC01P063768
  • GC01P062756
  • GC01P063191
  • GC01P063203
  • GC01P063545
  • GC01P063605
  • GC01P063834
  • GC01P061941

Summaries for ALG6 Gene

Entrez Gene Summary 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 Metabolism of proteins and N-Glycan biosynthesis. 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.

Gene Wiki entry for ALG6 Gene

Additional gene information for ALG6 Gene

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 for ALG6 Gene

Promoters and enhancers for ALG6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J063366 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 510.2 -0.1 -65 2.6 HNRNPK EP300 SIN3A NRF1 POLR2G PHF8 ZFX ZNF10 POLR2A ZBTB11 ALG6 ITGB3BP LOC441887
GH01J063522 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 28.9 +155.8 155753 3.1 EP300 FOXK2 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 MYC TCF12 USF1 ITGB3BP EFCAB7 ALG6 DLEU2L ROR1 FOXD3-AS1 FOXD3 ENSG00000235545 ATG4C DOCK7
GH01J063320 Promoter/Enhancer 1.3 Ensembl ENCODE 11.8 -43.9 -43874 7.8 HNRNPK CTCF NRF1 USF1 PHF8 TEAD4 ZFX ZNF639 ZIC2 ZBTB10 FOXD3 FOXD3-AS1 NONHSAG001697.2 lnc-FOXD3-4 ENSG00000236674 ALG6 MIR6068
GH01J063462 Enhancer 0.8 Ensembl ENCODE 17.9 +98.1 98125 6.6 ZNF623 CTCF FOS ZBTB11 ZNF426 STAT3 RAD21 ZNF34 ZC3H11A ZNF781 ITGB3BP EFCAB7 ALG6 ENSG00000236674 ROR1 piR-37170-002 L13715-002 lnc-ITGB3BP-5
GH01J064342 Enhancer 1.1 Ensembl ENCODE 10.6 +976.6 976626 3.6 ZNF217 TCF12 USF1 ZNF639 ZIC2 REST TRIM28 CUX1 ZNF662 EP300 ITGB3BP SLC2A3P2 EFCAB7 DLEU2L ALG6 ENSG00000272506 ROR1 JAK1 LINC01359 UBE2U
- 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 UCSC Golden Path with GeneCards custom track

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
chr1:63,367,575-63,438,562
(GRCh38/hg38)
Size:
70,988 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:
ALG6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • B3KMU2
    • Q5SXR9
    • Q9H3I0

    Protein attributes for ALG6 Gene

    Size:
    507 amino acids
    Molecular mass:
    58121 Da
    Quaternary structure:
    No Data Available

neXtProt entry 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALG6 Gene

Antibody Products

  • Abcam antibodies for ALG6
  • Boster Bio Antibodies for ALG6
  • Santa Cruz Biotechnology (SCBT) Antibodies 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

Blocks:
  • ALG6, ALG8 glycosyltransferase
InterPro:
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

UniProtKB/Swiss-Prot:

ALG6_HUMAN :
  • Belongs to the ALG6/ALG8 glucosyltransferase family.
Family:
  • Belongs to the ALG6/ALG8 glucosyltransferase family.
genes like me logo Genes that share domains with ALG6: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with ALG6: view
genes like me logo Genes that share phenotypes with ALG6: view

Human Phenotype Ontology for ALG6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALG6 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALG6 Gene

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 --
genes like me logo Genes that share ontologies with ALG6: view

Pathways & Interactions for ALG6 Gene

genes like me logo Genes that share pathways with ALG6: view

UniProtKB/Swiss-Prot Q9Y672-ALG6_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for ALG6 Gene

;

Gene Ontology (GO) - Biological Process for ALG6 Gene

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 TAS,IEA --
GO:0006490 oligosaccharide-lipid intermediate biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with ALG6: view

No data available for SIGNOR curated interactions for ALG6 Gene

Drugs & Compounds for ALG6 Gene

(2) Additional Compounds for ALG6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Dolichyl b-D-glucosyl phosphate
  • Dolichol monophosphate glucose
  • Dolichyl b-delta-glucosyl phosphate
  • Dolichyl beta-D-glucosyl phosphate
  • Dolichyl beta-delta-glucosyl phosphate
  • Dolichyl monophosphate glucose
220496-27-5
genes like me logo Genes that share compounds with ALG6: view

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG6

Alternative Splicing Database (ASD) splice patterns (SP) for ALG6 Gene

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALG6 Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners 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.258501

Evidence on tissue expression from TISSUES for ALG6 Gene

  • Nervous system(4.4)

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
genes like me logo Genes that share expression patterns with ALG6: view

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.

Orthologs for ALG6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG6 31 30
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALG6 31 30
  • 93.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALG6 31 30
  • 91.85 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alg6 30
  • 85.73 (n)
mouse
(Mus musculus)
Mammalia Alg6 17 31 30
  • 85.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALG6 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALG6 31
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG6 31 30
  • 74.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALG6 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg6 30
  • 66.8 (n)
Str.8942 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.2739 30
zebrafish
(Danio rerio)
Actinopterygii alg6 31 30
  • 62.19 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta gny 31 30
  • 50.81 (n)
OneToOne
CG5091 32
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008946 30
  • 47.22 (n)
worm
(Caenorhabditis elegans)
Secernentea C08B11.8 31 32 30
  • 51.11 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01221g 30
  • 49.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG6 31 30
  • 47.54 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR004W 30
  • 45.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G38460 30
  • 49.55 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg6 30
  • 53.37 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03317 30
  • 48.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
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 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

Paralogs for ALG6 Gene

(1) SIMAP similar genes for ALG6 Gene using alignment to 4 proteins:

  • ALG6_HUMAN
  • A2A2G4_HUMAN
  • R4GMS5_HUMAN
  • S4R350_HUMAN
genes like me logo Genes that share paralogs with ALG6: view

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

Additional dbSNP identifiers (rs#s) for ALG6 Gene

Structural Variations from Database of Genomic Variants (DGV) for ALG6 Gene

Variant ID Type Subtype PubMed ID
esv1543308 CNV deletion 17803354
nsv1002554 CNV gain 25217958
nsv1132 CNV deletion 18451855
nsv461672 CNV gain 19166990
nsv470714 CNV gain 18288195
nsv546433 CNV gain 21841781

Variation tolerance for ALG6 Gene

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

Human Gene Mutation Database (HGMD)
ALG6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG6 Gene

Disorders for ALG6 Gene

MalaCards: The human disease database

(17) MalaCards diseases for ALG6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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

genes like me logo Genes that share disorders with ALG6: view

No data available for Genatlas for ALG6 Gene

Publications for ALG6 Gene

  1. 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 54
  2. 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 54
  3. 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 54
  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 54
  5. 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 54

Products for ALG6 Gene

Sources for ALG6 Gene