Gene: ALPK1

Alternate names for this Gene: 8430410J10Rik|LAK|ROSAH

Gene Summary: This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4q25

Description of this Gene: alpha kinase 1

Type of Gene: protein-coding

rs1052954321 in ALPK1 gene and ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

rs7687819 in ALPK1 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs4833407 in ALPK1 gene and Body mass index PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

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

rs1052954321 in ALPK1 gene and MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

rs4833407 in ALPK1 gene and Obesity PMID 22484627 2012 A genome-wide association meta-analysis identifies new childhood obesity loci.

rs1052954321 in ALPK1 gene and Optic nerve oedema PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

rs1052954321 in ALPK1 gene and Retinal Dystrophies PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

rs1052954321 in ALPK1 gene and Splenomegaly PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.