Gene: NPEPPS

Alternate names for this Gene: AAP-S|MP100|PSA

Gene Summary: This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.32

Description of this Gene: aminopeptidase puromycin sensitive

Type of Gene: protein-coding

rs2935183 in NPEPPS gene and Amyotrophic Lateral Sclerosis PMID 24234648 2014 No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

rs12943464 in NPEPPS gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs117952616 in NPEPPS gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs12943464 in NPEPPS gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs12943464 in NPEPPS gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs3865314 in NPEPPS gene and Dental caries PMID 31235808 2019 Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

rs2935183 in NPEPPS gene and Multiple Sclerosis PMID 24234648 2014 No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

rs62073968 in NPEPPS gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12943464 in NPEPPS gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs62074014 in NPEPPS gene and Serum total cholesterol measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs12943464 in NPEPPS gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs4793836 in NPEPPS 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.