MGAM (maltase-glucoamylase)

2014-11-01  

Identity

HGNC
LOCATION
7q34
LOCUSID
ALIAS
MG,MGA

Other Information

Locus ID:

NCBI: 8972
MIM: 154360
HGNC: 7043
Ensembl: ENSG00000257335

Variants:

dbSNP: 8972
ClinVar: 8972
TCGA: ENSG00000257335
COSMIC: MGAM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000257335ENST00000465654E7EW87
ENSG00000257335ENST00000475668E7ER45
ENSG00000257335ENST00000497673E9PEQ5
ENSG00000257335ENST00000549489O43451
ENSG00000257335ENST00000620571O43451

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Galactose metabolismKEGGko00052
Starch and sucrose metabolismKEGGko00500
Galactose metabolismKEGGhsa00052
Starch and sucrose metabolismKEGGhsa00500
Metabolic pathwaysKEGGhsa01100
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Digestion of dietary carbohydrateREACTOMER-HSA-189085
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203568442010Structural basis for substrate selectivity in human maltase-glucoamylase and sucrase-isomaltase N-terminal domains.33
180366142008Human intestinal maltase-glucoamylase: crystal structure of the N-terminal catalytic subunit and basis of inhibition and substrate specificity.31
125479082003The maltase-glucoamylase gene: common ancestry to sucrase-isomaltase with complementary starch digestion activities.24
220580372011Structural insight into substrate specificity of human intestinal maltase-glucoamylase.21
174850872007Evidence of native starch degradation with human small intestinal maltase-glucoamylase (recombinant).12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
234050892013Genome wide analysis of chromosomal alterations in oral squamous cell carcinomas revealed over expression of MGAM and ADAM9.9
183779032008Clinical, endocrine, and metabolic effects of acarbose, a alpha-glucosidase inhibitor, in overweight and nonoverweight patients with polycystic ovarian syndrome.4
194723532009A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.4

Citation

Dessen P

MGAM (maltase-glucoamylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68948/mgam