Gene: MIPEP

Alternate names for this Gene: COXPD31|HMIP|MIP

Gene Summary: The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia.

Gene is located in Chromosome: 13

Location in Chromosome : 13q12.12

Description of this Gene: mitochondrial intermediate peptidase

Type of Gene: protein-coding

rs8181878 in MIPEP gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs114638163 in MIPEP gene and Cardiomyopathies PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs114638163 in MIPEP gene and Cardiomyopathy, Dilated PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs114638163 in MIPEP gene and Congenital cataract PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs114638163 in MIPEP gene and Generalized hypotonia PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs114638163 in MIPEP gene and Global developmental delay PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs114638163 in MIPEP gene and Infantile muscular hypotonia PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs114638163 in MIPEP gene and Left ventricular noncompaction PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs114638163 in MIPEP gene and Left ventricular noncompaction cardiomyopathy PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs9318086 in MIPEP gene and Myopia, Degenerative PMID 21640322 2011 Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.

rs114638163 in MIPEP gene and Seizures PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs74657221 in MIPEP 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.

rs74657221 in MIPEP 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.