Gene: PNKD

Alternate names for this Gene: BRP17|DYT8|FKSG19|FPD1|KIPP1184|MR-1|MR-1S|MR1|PDC|PKND1|PNKD1|R1|TAHCCP2

Gene Summary: This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: PNKD metallo-beta-lactamase domain containing

Type of Gene: protein-coding

rs145013566 in PNKD gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs145013566 in PNKD gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs145013566 in PNKD gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs145013566 in PNKD gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1877712 in PNKD gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs1877712 in PNKD gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs10716631 in PNKD gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs145013566 in PNKD gene and White Blood Cell Count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.