Gene: CAND1.11
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: AMPD3
Alternate names for this Gene: -
Gene Summary: This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described.
Gene is located in Chromosome: 11
Location in Chromosome : 11p15.4
Description of this Gene: adenosine monophosphate deaminase 3
Type of Gene: protein-coding
rs6484218 in
CAND1.11;AMPD3 gene and
Bipolar Disorder
PMID 20713499 2010 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.
rs4444073 in
CAND1.11;AMPD3 gene and
Birth Weight
PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
rs17296765 in
CAND1.11;AMPD3 gene and
Blood Pressure
PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
rs2060658 in
CAND1.11;AMPD3 gene and
Corpuscular Hemoglobin Concentration Mean
PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
rs2923084 in
CAND1.11;AMPD3 gene and
High density lipoprotein measurement
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
rs2923097 in
CAND1.11;AMPD3 gene and
Lean body mass
PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
rs6484218 in
CAND1.11;AMPD3 gene and
Major Depressive Disorder
PMID 20713499 2010 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.
rs6484218 in
CAND1.11;AMPD3 gene and
Mental disorders
PMID 20713499 2010 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.
rs6484218 in
CAND1.11;AMPD3 gene and
Psychotic Disorders
PMID 20713499 2010 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.
rs1562782 in
CAND1.11;AMPD3 gene and
QRS complex feature
PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.
rs2860284 in
CAND1.11;AMPD3 gene and
Red Blood Cell Count measurement
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2923084 in
CAND1.11;AMPD3 gene and
Serum HDL cholesterol measurement
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
rs2084600 in
CAND1.11;AMPD3 gene and
Systolic Pressure
PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.