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.