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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
  • 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 Pyrophosphate Man9GlcNAc2 Alpha-1,3-Glucosyltransferase 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 61
  • 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 Congenital Disorder Of Glycosylation, Type In. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. GO annotations related to this gene include transferase activity, transferring hexosyl groups and glucosyltransferase activity.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG6 Gene

Genomics for ALG6 Gene

Regulatory Elements for ALG6 Gene

Enhancers for ALG6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G063522 1.2 ENCODE 9.6 +155.9 155867 2.8 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ITGB3BP EFCAB7 DLEU2L FOXD3-AS1 FOXD3 ROR1 ALG6 LOC441887 RN7SL488P
GH01G063366 1.1 ENCODE 10.2 -0.2 -216 2.3 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 ITGB3BP ALG6 LOC441887
GH01G063441 0.9 Ensembl ENCODE 11.9 +74.2 74161 0.3 HDGF CTCF PKNOX1 ZNF654 FOXA2 TRIM22 REST RAD21 FOXA1 ZFHX2 ITGB3BP ALG6 LOC441887 GC01M063400 LOC102724319
GH01G063327 0.9 ENCODE 11.8 -39.8 -39806 0.3 CBX3 BMI1 ZNF2 RAD21 ZBTB40 RFX5 ZNF366 ZNF143 CREM ZNF654 LOC441887 ALG6 MIR6068 GC01P063333
GH01G063325 0.8 ENCODE 11.8 -41.0 -41029 1.8 RING1 KLF1 FOXA2 SUZ12 FEZF1 RBBP5 ZNF366 PATZ1 PRDM10 EZH2 LOC441887 ALG6 GC01P063325 MIR6068
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALG6 on UCSC Golden Path with GeneCards custom track

Promoters for ALG6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000007679 310 1400 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZNF766 SP3 MXD4

Genomic Location for ALG6 Gene

Chromosome:
1
Start:
63,367,590 bp from pter
End:
63,438,562 bp from pter
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:
    58181 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

Domains & Families for ALG6 Gene

Gene Families for ALG6 Gene

Protein Domains for ALG6 Gene

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 CatalyticActivity:
Dolichyl beta-D-glucosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
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.

Enzyme Numbers (IUBMB) 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 IBA --
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

Clone Products

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

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 TAS,IEA --
GO:0016020 membrane IEA,IDA 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.

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 --
GO:0006490 oligosaccharide-lipid intermediate biosynthetic process IBA --
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-D-glucosyl phosphate
  • Dolichyl b-delta-glucosyl phosphate
  • Dolichyl beta-D-glucosyl phosphate
  • Dolichyl beta-delta-glucosyl phosphate
220496-27-5
genes like me logo Genes that share compounds with ALG6: view

Transcripts for ALG6 Gene

Unigene Clusters for ALG6 Gene

ALG6, alpha-1,3-glucosyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
ALG6

Expression for ALG6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ALG6 Gene



Protein tissue co-expression partners for ALG6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALG6 Gene:

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
Organs:
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

Primer 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.

Orthologs for ALG6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG6 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia ALG6 34 35
  • 93.62 (n)
cow
(Bos Taurus)
Mammalia ALG6 34 35
  • 91.85 (n)
rat
(Rattus norvegicus)
Mammalia Alg6 34
  • 85.73 (n)
mouse
(Mus musculus)
Mammalia Alg6 34 16 35
  • 85.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALG6 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALG6 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG6 34 35
  • 74.88 (n)
lizard
(Anolis carolinensis)
Reptilia ALG6 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg6 34
  • 66.8 (n)
Str.8942 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2739 34
zebrafish
(Danio rerio)
Actinopterygii alg6 34 35
  • 62.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta gny 34 35
  • 50.81 (n)
CG5091 36
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008946 34
  • 47.22 (n)
worm
(Caenorhabditis elegans)
Secernentea C08B11.8 36 34 35
  • 51.11 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01221g 34
  • 49.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG6 34 35 37
  • 47.54 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR004W 34
  • 45.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G38460 34
  • 49.55 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg6 34
  • 53.37 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03317 34
  • 48.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for ALG6 Gene

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

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

No data available for Paralogs for ALG6 Gene

Variants for ALG6 Gene

Sequence variations from dbSNP and Humsavar for ALG6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs35383149 Pathogenic, Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] 63,406,361(-) ACAGT(A/G)CAAAA reference, missense
VAR_013443 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
VAR_013444 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
VAR_022512 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
VAR_022513 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]

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)

Relevant External Links for ALG6 Gene

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

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

Disorders for ALG6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ic
  • carbohydrate-deficient glycoprotein syndrome type v
congenital disorder of glycosylation, type in
  • congenital disorder of glycosylation
protein-losing enteropathy
  • enteropathy, exudative
alg6-congenital disorder of glycosylation
  • carbohydrate-deficient glycoprotein syndrome type ic
intracranial hypertension, idiopathic
  • pseudotumor cerebri
- 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.

Relevant External Links for ALG6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 22 64
  2. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PMID: 12357336) Schollen E. … Matthijs G. (Eur. J. Hum. Genet. 2002) 3 4 22 64
  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 H.H. (Hum. Mol. Genet. 2002) 2 3 4 64
  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. (J. Hum. Genet. 2001) 3 4 22 64
  5. Multi-allelic origin of congenital disorder of glycosylation (CDG)- Ic. (PMID: 10914684) Imbach T. … Hennet T. (Hum. Genet. 2000) 3 4 22 64

Products for ALG6 Gene

Sources for ALG6 Gene

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