Gene: AGK

Alternate names for this Gene: CATC5|CTRCT38|MTDPS10|MULK

Gene Summary: The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10.

Gene is located in Chromosome: 7

Location in Chromosome : 7q34

Description of this Gene: acylglycerol kinase

Type of Gene: protein-coding

rs746709222 in AGK gene and Cataract and cardiomyopathy PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 22415731 2012 Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

rs766413410 in AGK gene and Muscle hypotonia PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 22284826 2012 Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

PMID 25208612 2014 Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

PMID 22415731 2012 Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

PMID 28868593 2017 Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

PMID 23266196 2013 Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

rs766413410 in AGK gene and Overgrowth PMID 22284826 2012 Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 25208612 2014 Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

PMID 22415731 2012 Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

PMID 28868593 2017 Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

PMID 23266196 2013 Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

rs4725559 in AGK gene and Taste Perception (mental process) PMID 22132133 2011 Sensitivity of genome-wide-association signals to phenotyping strategy: the PROP-TAS2R38 taste association as a benchmark.