Gene: ALPK3

Alternate names for this Gene: CMH27|MAK|MIDORI

Gene Summary:

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.3

Description of this Gene: alpha kinase 3

Type of Gene: protein-coding

rs749465164 in ALPK3 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 PMID 26846950 2016 Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

rs769139957 in ALPK3 gene and Cardiomyopathies PMID 28630369 2017 ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

rs200889953 in ALPK3 gene and Hypertrophic Cardiomyopathy PMID 21441111 2012 Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice.

PMID 26846950 2016 Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

PMID 27106955 2016 ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

rs891288 in ALPK3 gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs891288 in ALPK3 gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.