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PMPCB

Synonyms
Beta-MPP, MAS1, MPP11, MPPB, MPPP52, P-52
External resources
Summary
This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
4
Likely pathogenic
1
VUS
2,779
Likely benign
2,890
Benign
1,059

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on PMPCB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
60%
Abnormality of the ear
40%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of the breast
20%
Abnormality of the cardiovascular system
20%
Abnormality of the digestive system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the nervous system
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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