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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AMY1A
amylase alpha 1A
Chromosome 1 · 1p21.1
NCBI Gene: 276Ensembl: ENSG00000174876.18HGNC: HGNC:474UniProt: P0DTE7
112PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chloride ion bindingcalcium ion bindingextracellular exosomeGO:0005615denturesdental cariestype 2 diabetes mellitusoropharynx cancer
✦AI Summary

AMY1A encodes salivary alpha-amylase, a calcium-binding enzyme that initiates starch digestion in the oral cavity 1. The enzyme catalyzes hydrolysis of internal (1→4)-alpha-D-glucosidic bonds in starch, producing maltose, isomaltose, glucose, and dextrins 1. AMY1A function is significantly influenced by copy number variation (CNV). Individuals with higher AMY1A copy numbers show increased serum amylase enzymatic activity 2. Copy number expansions have been evolutionarily selected in populations consuming high-starch diets, with haplotypes containing more than three AMY1A copies increasing in frequency among European farmers over the past 4000 years 3. AMY1A CNV has disease relevance in metabolic disorders. Higher AMY1A copy numbers are associated with reduced obesity risk, particularly in children consuming medium-to-high starch diets 2. Additionally, very high AMY1A copy numbers (≥10) correlate with decreased Alzheimer's dementia hazard ratio and improved memory performance, potentially through enhanced brain alpha-amylase activity 4. CNV also influences broader cardiometabolic risk factors including glucose homeostasis, lipid metabolism, and gut microbiome composition 5. Clinically, AMY1A serves as a diagnostic immunohistochemical marker, showing 100% sensitivity and 96.75% specificity in distinguishing benign oncocytoma from chr1 renal cell carcinoma 6.

Sources cited
1
AMY1A is a calcium-binding enzyme that initiates starch digestion and catalyzes hydrolysis of (1→4)-alpha-D-glucosidic bonds
PMID: 12527308
2
AMY1A copy number correlates with serum amylase activity and obesity risk, with effects modulated by starch intake
PMID: 32314532
3
AMY1A copy number expansions have been evolutionarily selected in populations with high-starch diets over thousands of years
PMID: 39418342
4
Very high AMY1A copy number is associated with reduced Alzheimer's dementia risk and improved memory performance
PMID: 33220711
5
AMY1A copy number variation influences obesity and cardiometabolic disorders through effects on glucose homeostasis, lipid metabolism, and gut microbiome
PMID: 33432778
6
AMY1A serves as an immunohistochemical marker with high sensitivity and specificity for distinguishing benign oncocytoma from chromophobe renal cell carcinoma
PMID: 24225843
Disease Associationsⓘ20
denturesOpen Targets
0.44Moderate
dental cariesOpen Targets
0.35Weak
type 2 diabetes mellitusOpen Targets
0.06Suggestive
oropharynx cancerOpen Targets
0.05Suggestive
atrophic gastritisOpen Targets
0.05Suggestive
hyperaldosteronismOpen Targets
0.05Suggestive
polycythemiaOpen Targets
0.05Suggestive
obesityOpen Targets
0.04Suggestive
cardiovascular diseaseOpen Targets
0.03Suggestive
trauma complicationOpen Targets
0.03Suggestive
viral pneumoniaOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
skull disorderOpen Targets
0.03Suggestive
osteoarthritisOpen Targets
0.03Suggestive
disease of peritoneumOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.02Suggestive
vertebral joint diseaseOpen Targets
0.02Suggestive
intelligenceOpen Targets
0.02Suggestive
prediabetes syndromeOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AMY1BProtein interaction100%AMY1CProtein interaction94%ST6GAL2Shared pathway50%NAGAShared pathway50%IDNKShared pathway50%GLT6D1Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Liver
0%
Brain
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AMY1AAMY1BAMY1CST6GAL2NAGAIDNKGLT6D1
PROTEIN STRUCTURE
Preparing viewer…
PDB3DHP · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.90LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF1.18 [0.41–1.90]
RankingsWhere AMY1A stands among ~20K protein-coding genes
  • #4,215of 20,598
    Most Researched112 · top quartile
  • #17,283of 17,882
    Most Constrained (LOEUF)1.90
Genes detectedAMY1A
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Polymorphisms of AMY1A gene and their association with growth, carcass traits and feed intake efficiency in chickens.
PMID: 33485951
Genomics · 2021
1.00
2
Influence of AMY1A copy number variations on obesity and other cardiometabolic risk factors: A review of the evidence.
PMID: 33432778
Obes Rev · 2021
0.90
3
Alpha-amylase 1A copy number variants and the association with memory performance and Alzheimer's dementia.
PMID: 33220711
Alzheimers Res Ther · 2020
0.80
4
Association of AMY1A/AMY2A copy numbers and AMY1/AMY2 serum enzymatic activity with obesity in Mexican children.
PMID: 32314532
Pediatr Obes · 2020
0.70
5
Identification of proteomic signatures associated with lung cancer and COPD.
PMID: 23665002
J Proteomics · 2013
0.60