Gene: PAM

Alternate names for this Gene: PAL|PHM

Gene Summary: This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

Gene is located in Chromosome: 5

Location in Chromosome : 5q21.1

Description of this Gene: peptidylglycine alpha-amidating monooxygenase

Type of Gene: protein-coding

rs35658696 in PAM gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs74567345 in PAM gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs35658696 in PAM gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs13175330 in PAM gene and Diastolic blood pressure PMID 29208002 2017 EPHA6 rs4857055 C > T polymorphism associates with hypertension through triglyceride and LDL particle size in the Korean population.

rs3776864 in PAM gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs7729395 in PAM gene and Electrocardiogram: P-R interval PMID 30046033 2018 PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

rs35658696 in PAM gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs258132 in PAM gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs10463554 in PAM gene and Parkinson Disease PMID 28892059 2017 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

rs17154889 in PAM gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2431320 in PAM gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs80134320 in PAM gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.