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MIPEP

Synonyms
COXPD31, HMIP, MIP
External resources
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
15
Likely pathogenic
0
VUS
5,287
Likely benign
985
Benign
207

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on MIPEP gene are displayed below. The following symptoms were found in patients with a variant in MIPEP. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
26.7%
Abnormality of the ear
20%
Abnormality of the eye
20%
Growth abnormality
20%
Abnormality of metabolism homeostasis
13.3%
Abnormality of the cardiovascular system
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of the immune system
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of blood and blood forming tissues
6.7%
Abnormality of limbs
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the integument
6.7%
Abnormality of the respiratory system
6.7%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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