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Aliases for GANAB Gene

Aliases for GANAB Gene

  • Glucosidase II Alpha Subunit 2 3 5
  • Neutral Alpha-Glucosidase AB 2 3
  • Alpha-Glucosidase 2 3 4
  • G2AN 3 4
  • Glucosidase, Alpha; Neutral AB 2
  • Glucosidase II Subunit Alpha 4
  • EC 3.2.1.84 4
  • KIAA0088 4
  • GLUII 3
  • GIIA 3
  • PKD3 3

External Ids for GANAB Gene

Previous GeneCards Identifiers for GANAB Gene

  • GC11U990054
  • GC11M062166
  • GC11M062148
  • GC11M062430
  • GC11M058721
  • GC11M062481
  • GC11M062675
  • GC11M062689
  • GC11M062718
  • GC11M062729
  • GC11M062740
  • GC11M062756
  • GC11M062770
  • GC11M062787

Summaries for GANAB Gene

Entrez Gene Summary for GANAB Gene

  • This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]

GeneCards Summary for GANAB Gene

GANAB (Glucosidase II Alpha Subunit) is a Protein Coding gene. Diseases associated with GANAB include Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Calnexin/calreticulin cycle and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is GANC.

UniProtKB/Swiss-Prot for GANAB Gene

  • Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).

Tocris Summary for GANAB Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for GANAB Gene

Additional gene information for GANAB Gene

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

Genomics for GANAB Gene

GeneHancer (GH) Regulatory Elements for GANAB Gene

Promoters and enhancers for GANAB 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
GH11J062645 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 676.9 +0.4 361 2.7 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF213 GANAB EML3 NXF1 INTS5 SCGB1D1 EEF1DP8 ENSG00000203520 CSKMT MTA2 LOC105369332
GH11J062838 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 96.9 -194.1 -194120 4.8 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 WDR74 RNU2-2P GC11M062842 NXF1 CSKMT INTS5 SNHG1 UBXN1 MTA2 GANAB
GH11J062852 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 76.8 -209.1 -209111 5.9 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NXF1 SNHG1 SLC3A2 SNORD29 SNORD28 SNORD27 SNORD26 SNORD25 GC11M062938 GC11M062942
GH11J062669 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 62.8 -24.8 -24763 4.2 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 GC11M062588 LBHD1 UQCC3 EML3 LOC105369332 MTA2 GANAB WDR74 STX5 CSKMT
GH11J061960 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 43.8 +677.8 677802 16.4 CLOCK MLX ZFP64 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 GC11M061970 GC11M061969 GC11M061968 FTH1 LOC399900 NXF1 INTS5 LOC105369332 CPSF7 UBXN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GANAB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GANAB gene promoter:
  • NF-1
  • PPAR-alpha
  • E47
  • Tal-1
  • Max1
  • AP-1
  • c-Fos
  • c-Jun
  • Sp1
  • TBP

Genomic Locations for GANAB Gene

Genomic Locations for GANAB Gene
chr11:62,624,826-62,646,726
(GRCh38/hg38)
Size:
21,901 bases
Orientation:
Minus strand
chr11:62,392,298-62,414,104
(GRCh37/hg19)
Size:
21,807 bases
Orientation:
Minus strand

Genomic View for GANAB Gene

Genes around GANAB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GANAB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GANAB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GANAB Gene

Proteins for GANAB Gene

  • Protein details for GANAB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14697-GANAB_HUMAN
    Recommended name:
    Neutral alpha-glucosidase AB
    Protein Accession:
    Q14697
    Secondary Accessions:
    • A6NC20
    • Q8WTS9
    • Q9P0X0

    Protein attributes for GANAB Gene

    Size:
    944 amino acids
    Molecular mass:
    106874 Da
    Quaternary structure:
    • Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC (By similarity).
    SequenceCaution:
    • Sequence=AAH65266.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for GANAB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GANAB Gene

Post-translational modifications for GANAB Gene

  • Glycosylation at Asn97
  • Ubiquitination at isoforms=2930, Lys908, isoforms=2899, isoforms=2491, isoforms=2472, isoforms=2462, Lys269, and isoforms=248
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GANAB Gene

Domains & Families for GANAB Gene

Gene Families for GANAB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GANAB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14697

UniProtKB/Swiss-Prot:

GANAB_HUMAN :
  • Belongs to the glycosyl hydrolase 31 family.
Family:
  • Belongs to the glycosyl hydrolase 31 family.
genes like me logo Genes that share domains with GANAB: view

Function for GANAB Gene

Molecular function for GANAB Gene

UniProtKB/Swiss-Prot Function:
Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal (1->3)-alpha-D-glucosidic links in (1->3)-alpha-D-glucans.
GENATLAS Biochemistry:
glucosidase,alpha-,neutral AB

Enzyme Numbers (IUBMB) for GANAB Gene

Phenotypes From GWAS Catalog for GANAB Gene

Gene Ontology (GO) - Molecular Function for GANAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003824 catalytic activity IEA --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with GANAB: view
genes like me logo Genes that share phenotypes with GANAB: view

Human Phenotype Ontology for GANAB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for GANAB

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GANAB Gene

Localization for GANAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GANAB Gene

Endoplasmic reticulum. Golgi apparatus. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

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 GANAB gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 4
plasma membrane 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Endoplasmic reticulum (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GANAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane HDA 19946888
GO:0017177 glucosidase II complex IEA --
genes like me logo Genes that share ontologies with GANAB: view

Pathways & Interactions for GANAB Gene

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

UniProtKB/Swiss-Prot Q14697-GANAB_HUMAN

  • Pathway: Glycan metabolism; N-glycan metabolism.

Gene Ontology (GO) - Biological Process for GANAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006457 protein folding TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GANAB: view

No data available for SIGNOR curated interactions for GANAB Gene

Drugs & Compounds for GANAB Gene

(10) Drugs for GANAB Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Miglitol Approved Pharma Target, antagonist 12
Voglibose Approved, Investigational Pharma α-glucosidases inhibitor 23
D-glucose Approved, Vet_approved Pharma 0
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 91

(1) Additional Compounds for GANAB Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Miglustat hydrochloride
210110-90-0

(5) Tocris Compounds for GANAB Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0

(3) ApexBio Compounds for GANAB Gene

Compound Action Cas Number
N-Nonyldeoxynojirimycin 81117-35-3
Sinensetin α-glucosidase inhibitor, selective 2306-27-6
Voglibose α-glucosidases inhibitor 83480-29-9
genes like me logo Genes that share compounds with GANAB: view

Drug Products

Transcripts for GANAB Gene

Unigene Clusters for GANAB Gene

Glucosidase, alpha; neutral AB:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - -
SP7: - - - -
SP8: - - - -
SP9:
SP10:
SP11: - -
SP12: - - - - -
SP13: - - - -
SP14:
SP15:
SP16: - - - - - - -
SP17: -

ExUns: 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for GANAB Gene

GeneLoc Exon Structure for
GANAB
ECgene alternative splicing isoforms for
GANAB

Expression for GANAB Gene

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

Protein differential expression in normal tissues from HIPED for GANAB Gene

This gene is overexpressed in Lymph node (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GANAB Gene



Protein tissue co-expression partners for GANAB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GANAB Gene:

GANAB

SOURCE GeneReport for Unigene cluster for GANAB Gene:

Hs.595071

mRNA Expression by UniProt/SwissProt for GANAB Gene:

Q14697-GANAB_HUMAN
Tissue specificity: Detected in placenta (PubMed:3881423). Isoform 1 and isoform 2 are expressed in the kidney and liver (PubMed:27259053).

Evidence on tissue expression from TISSUES for GANAB Gene

  • Nervous system(5)
  • Intestine(4.6)
  • Liver(4.5)
  • Bone marrow(4.3)
  • Lung(4.2)
  • Kidney(3.4)
  • Eye(3.1)
  • Pancreas(3.1)
  • Skin(3.1)
  • Thyroid gland(2.7)
  • Stomach(2.4)
  • Blood(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with GANAB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GANAB Gene

Orthologs for GANAB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GANAB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GANAB 34 33
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GANAB 34 33
  • 90.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GANAB 34 33
  • 89.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ganab 16 34 33
  • 87.62 (n)
rat
(Rattus norvegicus)
Mammalia Ganab 33
  • 87.35 (n)
oppossum
(Monodelphis domestica)
Mammalia GANAB 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 20 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 65 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ganab 33
  • 65.6 (n)
Str.3740 33
zebrafish
(Danio rerio)
Actinopterygii LOC100334924 33
  • 66.53 (n)
GANAB (1 of 3) 34
  • 66 (a)
OneToMany
GANAB (3 of 3) 34
  • 64 (a)
OneToMany
GANAB (2 of 3) 34
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG14476 34 33
  • 55.02 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000862 33
  • 53.8 (n)
worm
(Caenorhabditis elegans)
Secernentea aagr-3 34 33
  • 52.11 (n)
ManyToMany
aagr-4 34
  • 45 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR173C 33
  • 47.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROT2 36 34 33
  • 47.12 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09735g 33
  • 47.11 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RSW3 33
  • 53.53 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3471 33
rice
(Oryza sativa)
Liliopsida Os03g0216600 33
  • 56.51 (n)
Os.6168 33
barley
(Hordeum vulgare)
Liliopsida Hv.10182 33
bread mold
(Neurospora crassa)
Ascomycetes NCU04203 33
  • 52.05 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gls2 33
  • 49.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
Cin.3796 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3796 33
Species where no ortholog for GANAB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • 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 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 GANAB Gene

ENSEMBL:
Gene Tree for GANAB (if available)
TreeFam:
Gene Tree for GANAB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GANAB: view image

Paralogs for GANAB Gene

Paralogs for GANAB Gene

(2) SIMAP similar genes for GANAB Gene using alignment to 6 proteins:

  • GANAB_HUMAN
  • E9PKU7_HUMAN
  • E9PNH1_HUMAN
  • E9PQ69_HUMAN
  • F5H6X6_HUMAN
  • Q9BS14_HUMAN
genes like me logo Genes that share paralogs with GANAB: view

Variants for GANAB Gene

Sequence variations from dbSNP and Humsavar for GANAB Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs752158933 pathogenic, POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE 62,639,458(-) TCTCT/TCT 5_prime_UTR_variant, coding_sequence_variant, frameshift, intron_variant
rs770519542 pathogenic, POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE, Polycystic kidney disease 3 (PKD3) [MIM:600666] 62,630,788(-) C/A/T coding_sequence_variant, missense_variant
rs879255641 pathogenic, Polycystic kidney disease 3 62,629,281(-) CT/ coding_sequence_variant, frameshift
rs879255642 pathogenic, POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE, Polycystic kidney disease 3 (PKD3) [MIM:600666] 62,631,032(-) G/C coding_sequence_variant, missense_variant
rs879255643 pathogenic, POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE, Polycystic kidney disease 3 (PKD3) [MIM:600666] 62,626,633(-) G/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv832182 CNV gain+loss 17160897
nsv825939 CNV gain 20364138
nsv555174 CNV gain 21841781
esv3584599 CNV gain 24956385

Variation tolerance for GANAB Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GANAB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GANAB Gene

MalaCards: The human disease database

(6) MalaCards diseases for GANAB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GANAB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GANAB_HUMAN
  • Polycystic kidney disease 3 (PKD3) [MIM:600666]: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant. {ECO:0000269 PubMed:27259053}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GANAB

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

No data available for Genatlas for GANAB Gene

Publications for GANAB Gene

  1. Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies. (PMID: 3881423) Martiniuk F … Hirschhorn R (The Journal of biological chemistry 1985) 2 3 4 58
  2. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. (PMID: 27259053) Porath B … Harris PC (American journal of human genetics 2016) 3 4 58
  3. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A … Hunt DF (Journal of proteome research 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The alpha- and beta-subunits are required for expression of catalytic activity in the hetero-dimeric glucosidase II complex from human liver. (PMID: 10764838) Treml K … Bause E (Glycobiology 2000) 2 3 58

Products for GANAB Gene