This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, ... See more...

Aliases for MGAM Gene

Aliases for MGAM Gene

  • Maltase-Glucoamylase 2 3 5
  • MGA 2 3 4
  • Maltase-Glucoamylase, Intestinal 3 4
  • Maltase-Glucoamylase (Alpha-Glucosidase) 3
  • Brush Border Hydrolase 3
  • Alpha-Glucosidase 2
  • EC 3.2.1.20 50
  • MGAML 4
  • MGAM 5
  • MG 3

External Ids for MGAM Gene

Previous GeneCards Identifiers for MGAM Gene

  • GC07P139967
  • GC07P140976
  • GC07P141102
  • GC07P141148
  • GC07P141342
  • GC07P141607
  • GC07P135992
  • GC07P142618
  • GC07P142931
  • GC07P144254
  • GC07P144396
  • GC07P144564
  • GC07P144806
  • GC07P143075
  • GC07P143225
  • GC07P143421
  • GC07P143570
  • GC07P143720
  • GC07P143847
  • GC07P143988
  • GC07P144111
  • GC07P145052
  • GC07P145339

Summaries for MGAM Gene

Entrez Gene Summary for MGAM Gene

  • This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]

GeneCards Summary for MGAM Gene

MGAM (Maltase-Glucoamylase) is a Protein Coding gene. Diseases associated with MGAM include Glycogen Storage Disease Ii and Diarrhea. Among its related pathways are Glycosaminoglycan metabolism and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and alpha-1,4-glucosidase activity. An important paralog of this gene is MGAM2.

UniProtKB/Swiss-Prot Summary for MGAM Gene

  • May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing.

Gene Wiki entry for MGAM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MGAM Gene

Genomics for MGAM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MGAM 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
GH07J141995 Promoter/Enhancer 0.7 EPDnew Ensembl ENCODE 250.2 +88.2 88191 1.3 MGAM TAS2R38 piR-40666-026 HSALNG0061873 MGAM2
GH07J141907 Enhancer 0.2 Ensembl 250.7 -0.2 -156 0.5 MGAM WEE2-AS1 OR9A4 TAS2R4 HSALNG0061867 lnc-CLEC5A-1 PRSS37
GH07J141884 Enhancer 0.9 FANTOM5 Ensembl 13.2 -22.3 -22312 2.6 BCL11A TARDBP IRF4 EBF1 CBFB BATF NFATC1 TCF7 MTA3 ATF2 OR9A1P piR-41195-076 OR9A4 WEE2-AS1 CLEC5A MGAM OR9N1P TAS2R38 PRSS37
GH07J141915 Enhancer 0.7 Ensembl ENCODE 0.4 +8.0 8010 1.2 NFE2 SPI1 PKNOX1 POLR2A BACH1 MNT FOS OR9A4 WEE2-AS1 CLEC5A lnc-OR9A4-1-002 MGAM
GH07J141911 Enhancer 0.4 FANTOM5 Ensembl 0.7 +3.6 3588 1.6 OR9N1P lnc-OR9A4-1-001 lnc-OR9A4-1-002 WEE2-AS1 CLEC5A TAS2R38 MGAM OR9A4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MGAM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MGAM

Top Transcription factor binding sites by QIAGEN in the MGAM gene promoter:
  • AML1a
  • ATF-2
  • c-Jun

Genomic Locations for MGAM Gene

Latest Assembly
chr7:141,907,813-142,106,747
(GRCh38/hg38)
Size:
198,935 bases
Orientation:
Plus strand

Previous Assembly
chr7:141,695,679-141,806,547
(GRCh37/hg19 by Entrez Gene)
Size:
110,869 bases
Orientation:
Plus strand

chr7:141,607,613-141,806,547
(GRCh37/hg19 by Ensembl)
Size:
198,935 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr7(ALT_REF_LOCI_1):411-68,627 (+)

Genomic View for MGAM Gene

Genes around MGAM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MGAM Gene

Proteins for MGAM Gene

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

    Protein Symbol:
    O43451-MGA_HUMAN
    Recommended name:
    Maltase-glucoamylase, intestinal
    Protein Accession:
    O43451
    Secondary Accessions:
    • Q0VAX6
    • Q75ME7
    • Q86UM5

    Protein attributes for MGAM Gene

    Size:
    1857 amino acids
    Molecular mass:
    209852 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for MGAM Gene

neXtProt entry for MGAM Gene

Selected DME Specific Peptides for MGAM Gene

O43451:
  • GADICGF
  • LLPYLYTL

Post-translational modifications for MGAM Gene

  • N- and O-glycosylated.
  • Does not undergo intracellular or extracellular proteolytic cleavage.
  • Sulfated.
  • Glycosylation at Asn135, Asn295, Asn457, Asn458, Asn479, Asn707, Asn749, Asn827, Asn885, Asn912, Asn977, Asn989, Asn1255, Asn1323, Asn1364, Asn1388, Asn1603, Asn1672, Asn1842, and Asn1847
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for MGAM Gene

Gene Families for MGAM Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for MGAM Gene

GenScript: Design optimal peptide antigens:
  • Maltase-glucoamylase, intestinal (MGA_HUMAN)
  • Maltase-glucoamylase (Q8TE24_HUMAN)
  • Maltase-glucoamylase (Q8TE25_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43451

UniProtKB/Swiss-Prot:

MGA_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 MGAM: view

Function for MGAM Gene

Molecular function for MGAM Gene

UniProtKB/Swiss-Prot Function:
May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.; EC=3.2.1.20;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose.; EC=3.2.1.3;.
GENATLAS Biochemistry:
maltase-glucoamylase,alpha-glucosidase,expressed in the small intestine,member of the glucosyl hydrolase family 31,playing a unique role in the digestion of malted dietary oligosaccharides

Enzyme Numbers (IUBMB) for MGAM Gene

Phenotypes From GWAS Catalog for MGAM Gene

Gene Ontology (GO) - Molecular Function for MGAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 9446624
GO:0004339 glucan 1,4-alpha-glucosidase activity IEA --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IBA 21873635
GO:0004558 alpha-1,4-glucosidase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with MGAM: view
genes like me logo Genes that share phenotypes with MGAM: view

Animal Models for MGAM Gene

MGI Knock Outs for MGAM:

Animal Models for research

  • Taconic Biosciences Mouse Models for MGAM

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MGAM Gene

Localization for MGAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGAM Gene

Apical cell membrane. Single-pass type II membrane protein. Note=Brush border.

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 MGAM gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytosol 3
lysosome 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for MGAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with MGAM: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MGAM Gene

Pathways & Interactions for MGAM Gene

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

Gene Ontology (GO) - Biological Process for MGAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000023 maltose metabolic process IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0005983 starch catabolic process TAS 9446624
GO:0008152 metabolic process IEA --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with MGAM: view

No data available for SIGNOR curated interactions for MGAM Gene

Drugs & Compounds for MGAM Gene

(40) Drugs for MGAM Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma Target, inhibitor Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 102
Miglitol Approved Pharma Target, antagonist, inhibitor 13
Sucrose Approved, Experimental, Investigational Pharma 0
D-glucose Approved, Experimental, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0

(35) Additional Compounds for MGAM Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycogen
  • Animal starch
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • Α-D-GLC
  • a-Dextrose
492-62-6
Dextrin
  • British gum
  • Caloreen
  • Corn dextrin
  • Crystal gum
  • Dextrid
9004-53-9
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructose
  • beta-Fruit sugar
  • beta-Levulose
  • FRUCTOSE
53188-23-1
D-Galactose
  • ALPHA D-GALACTOSE
  • alpha-D-Gal
  • Gal-alpha
  • alpha-D-Galactose
  • a D-GALACTOSE
3646-73-9

(1) ApexBio Compounds for MGAM Gene

Compound Action Cas Number
Voglibose α-glucosidases inhibitor 83480-29-9
genes like me logo Genes that share compounds with MGAM: view

Drug products for research

Transcripts for MGAM Gene

mRNA/cDNA for MGAM Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for MGAM Gene

GeneLoc Exon Structure for
MGAM

Expression for MGAM Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MGAM Gene

This gene is overexpressed in Whole Blood (x36.5) and Small Intestine - Terminal Ileum (x8.8).

Protein differential expression in normal tissues from HIPED for MGAM Gene

This gene is overexpressed in Pancreatic juice (45.3), Urine (11.6), and Neutrophil (7.6).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MGAM

SOURCE GeneReport for Unigene cluster for MGAM Gene:

Hs.122785

mRNA Expression by UniProt/SwissProt for MGAM Gene:

O43451-MGA_HUMAN
Tissue specificity: Expressed in small intestine, granulocyte, and kidney but not in salivary gland or pancreas.

Evidence on tissue expression from TISSUES for MGAM Gene

  • Intestine(4.5)
  • Pancreas(2.5)
  • Blood(2.5)
  • Muscle(2.4)
  • Liver(2.3)
  • Heart(2.1)
  • Kidney(2.1)
  • Urine(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with MGAM: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MGAM Gene

Orthologs for MGAM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MGAM Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia MGAM 29 30
  • 87.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MGAM 29 30
  • 86.93 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 83 (a)
ManyToMany
-- 30
  • 77 (a)
ManyToMany
-- 30
  • 74 (a)
ManyToMany
-- 30
  • 68 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Mgam 29 16 30
  • 81.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC679818 29
  • 81.47 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 69 (a)
ManyToMany
Chimpanzee
(Pan troglodytes)
Mammalia MGAM 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SI 29
  • 65.31 (n)
-- 30
  • 61 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 62 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mgam 29
  • 63.73 (n)
Zebrafish
(Danio rerio)
Actinopterygii si 29
  • 61.14 (n)
CABZ01079192.1 30
  • 55 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea aagr-2 29
  • 50.99 (n)
D2096.3 31
  • 39 (a)
R05F9.12 31
  • 38 (a)
F53F4.8 31
  • 36 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROT2 30
  • 22 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G11720 29
  • 48.78 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0676700 29
  • 47.95 (n)
Os.19761 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU04674 29
  • 47.44 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 19 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1518 29
Species where no ortholog for MGAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 MGAM Gene

ENSEMBL:
Gene Tree for MGAM (if available)
TreeFam:
Gene Tree for MGAM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MGAM: view image
Alliance of Genome Resources:
Additional Orthologs for MGAM

Paralogs for MGAM Gene

Paralogs for MGAM Gene

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

  • MGA_HUMAN
  • E7ER45_HUMAN
  • E7EW87_HUMAN
  • E9PEQ5_HUMAN
  • Q8TE24_HUMAN
  • Q8TE25_HUMAN
genes like me logo Genes that share paralogs with MGAM: view

Variants for MGAM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MGAM Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs112671793 Benign: not provided 142,095,604(+) A/G
NM_001365693.1(MGAM):c.7498A>G (p.Ile2500Val)
MISSENSE
rs114816880 Benign: not provided 142,094,642(+) C/T
NM_001365693.1(MGAM):c.7329C>T (p.Phe2443=)
SYNONYMOUS
rs115785937 Benign: not provided 142,050,801(+) A/C
NM_001365693.1(MGAM):c.2742A>C (p.Thr914=)
SYNONYMOUS
rs138571855 Benign: not provided 142,095,677(+) C/T
NM_001365693.1(MGAM):c.7571C>T (p.Thr2524Met)
MISSENSE
rs140384815 Benign: not provided 142,094,612(+) C/T
NM_001365693.1(MGAM):c.7307-8C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MGAM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1115e201 CNV deletion 23290073
dgv1116e201 CNV deletion 23290073
dgv1136n67 CNV loss 20364138
dgv11627n54 CNV loss 21841781
dgv11628n54 CNV loss 21841781
dgv11629n54 CNV gain 21841781
dgv11630n54 CNV gain 21841781
dgv11631n54 CNV loss 21841781
dgv11632n54 CNV loss 21841781
dgv11633n54 CNV loss 21841781
dgv11634n54 CNV gain+loss 21841781
dgv11635n54 CNV gain+loss 21841781
dgv11636n54 CNV gain+loss 21841781
dgv11637n54 CNV loss 21841781
dgv11638n54 CNV loss 21841781
dgv11639n54 CNV loss 21841781
dgv11640n54 CNV loss 21841781
dgv11641n54 CNV loss 21841781
dgv11642n54 CNV loss 21841781
dgv11643n54 CNV loss 21841781
dgv1242e199 CNV deletion 23128226
dgv1331e214 CNV gain 21293372
dgv1967e212 CNV loss 25503493
dgv451e215 CNV deletion 23714750
dgv6646n100 CNV loss 25217958
dgv6647n100 CNV loss 25217958
dgv6648n100 CNV loss 25217958
dgv6649n100 CNV loss 25217958
dgv6650n100 CNV gain+loss 25217958
dgv6651n100 CNV gain 25217958
dgv6652n100 CNV loss 25217958
dgv6653n100 CNV loss 25217958
dgv6654n100 CNV gain+loss 25217958
dgv6655n100 CNV gain+loss 25217958
dgv6656n100 CNV gain 25217958
dgv6657n100 CNV loss 25217958
dgv6658n100 CNV gain+loss 25217958
dgv6659n100 CNV loss 25217958
dgv6660n100 CNV loss 25217958
dgv6661n100 CNV gain 25217958
dgv6662n100 CNV loss 25217958
dgv6663n100 CNV loss 25217958
dgv6664n100 CNV loss 25217958
dgv6665n100 CNV gain 25217958
dgv832n27 CNV gain 19166990
dgv833n27 CNV gain 19166990
dgv834n27 CNV loss 19166990
dgv835n27 CNV loss 19166990
dgv836n27 CNV loss 19166990
dgv837n27 CNV loss 19166990
dgv838n27 CNV loss 19166990
esv1318675 CNV insertion 17803354
esv1556929 CNV deletion 17803354
esv1780125 CNV insertion 17803354
esv2421934 CNV deletion 20811451
esv25886 CNV gain+loss 19812545
esv2735254 CNV deletion 23290073
esv2735255 CNV deletion 23290073
esv2759568 CNV gain+loss 17122850
esv2761103 CNV loss 21179565
esv2764021 CNV gain+loss 21179565
esv3357589 CNV insertion 20981092
esv3389621 CNV duplication 20981092
esv33962 CNV gain+loss 17666407
esv3584869 CNV loss 24956385
esv3615263 CNV loss 21293372
esv3615264 CNV loss 21293372
esv3615267 CNV loss 21293372
esv3615268 CNV gain 21293372
esv3615269 CNV loss 21293372
esv3891212 CNV loss 25118596
esv3891213 CNV loss 25118596
esv3891214 CNV loss 25118596
nsv1020753 CNV loss 25217958
nsv1022317 CNV gain 25217958
nsv1027137 CNV gain+loss 25217958
nsv1028562 CNV gain 25217958
nsv1035098 CNV loss 25217958
nsv1075064 CNV deletion 25765185
nsv1076006 CNV deletion 25765185
nsv1126811 CNV deletion 24896259
nsv1128959 CNV duplication 24896259
nsv1142028 OTHER inversion 24896259
nsv1161623 CNV deletion 26073780
nsv1161624 CNV duplication 26073780
nsv1161625 CNV deletion 26073780
nsv1161626 CNV deletion 26073780
nsv433239 CNV loss 18776910
nsv433393 CNV gain 18776910
nsv438007 CNV loss 16468122
nsv442187 CNV loss 18776908
nsv464740 CNV loss 19166990
nsv464741 CNV loss 19166990
nsv464790 CNV gain 19166990
nsv465105 CNV gain 19166990
nsv465131 CNV loss 19166990
nsv470395 CNV loss 18288195
nsv473627 CNV novel sequence insertion 20440878
nsv514453 CNV gain+loss 21397061
nsv515542 CNV loss 19592680
nsv516285 CNV gain+loss 19592680
nsv525756 CNV loss 19592680
nsv5975 CNV insertion 18451855
nsv5976 CNV insertion 18451855
nsv608536 CNV gain 21841781
nsv608550 CNV loss 21841781
nsv608565 CNV gain+loss 21841781
nsv608588 CNV loss 21841781
nsv608589 CNV loss 21841781
nsv818558 CNV gain+loss 17921354
nsv818559 CNV loss 17921354
nsv818560 CNV loss 17921354
nsv820289 CNV loss 19587683
nsv8217 CNV loss 18304495
nsv8218 CNV gain+loss 18304495
nsv824323 CNV loss 20364138
nsv824324 CNV gain 20364138
nsv824329 CNV loss 20364138
nsv824330 CNV loss 20364138
nsv831161 CNV loss 17160897
nsv949958 CNV deletion 24416366
nsv958432 CNV deletion 24416366
nsv970587 CNV duplication 23825009
nsv970945 CNV duplication 23825009
nsv971197 CNV duplication 23825009

Variation tolerance for MGAM Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.91; 97.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MGAM Gene

Human Gene Mutation Database (HGMD)
MGAM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MGAM
Leiden Open Variation Database (LOVD)
MGAM

SNP Genotyping and Copy Number Assays for research

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

Disorders for MGAM Gene

MalaCards: The human disease database

(36) MalaCards diseases for MGAM Gene - From: COP and GCD

Disorder Aliases PubMed IDs
glycogen storage disease ii
  • gsd2
diarrhea
  • diarrhea of presumed infectious origin
pneumatosis cystoides intestinalis
glycogen storage disease
  • glycogenoses
sucrase-isomaltase deficiency, congenital
  • csid
- elite association - COSMIC cancer census association via MalaCards
Search MGAM in MalaCards View complete list of genes associated with diseases

Genatlas disease for MGAM Gene

diarrhea in children associated with starch malabsorption and small intestinal glucoamylase deficiency

Additional Disease Information for MGAM

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MGAM: view

No data available for UniProtKB/Swiss-Prot for MGAM Gene

Publications for MGAM Gene

  1. Human small intestinal maltase-glucoamylase cDNA cloning. Homology to sucrase-isomaltase. (PMID: 9446624) Nichols BL … Sterchi E (The Journal of biological chemistry 1998) 2 3 4 22
  2. Human intestinal maltase-glucoamylase: crystal structure of the N-terminal catalytic subunit and basis of inhibition and substrate specificity. (PMID: 18036614) Sim L … Rose DR (Journal of molecular biology 2008) 3 4 22
  3. Structural basis for substrate selectivity in human maltase-glucoamylase and sucrase-isomaltase N-terminal domains. (PMID: 20356844) Sim L … Rose DR (The Journal of biological chemistry 2010) 3 22
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. (PMID: 16702880) Zhang H … Bali D (Genetics in medicine : official journal of the American College of Medical Genetics 2006) 22 25

Products for MGAM Gene

Sources for MGAM Gene