PMPCB Chromosome 7
Peptidase, mitochondrial processing subunit beta
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
M16 metallopeptidases
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000105819
Associated Conditions (6)
Multiple mitochondrial dysfunctions syndrome 6
PMPCB-related disorder
Inborn genetic diseases
PMPCB-related mitochondrial disorder
PMPCB-related ataxia
Lung cancer
Key Variants
RS144744182
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 6, PMPCB-related disorder, Inborn genetic diseases
Health Risk
RS146343535
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 6, Inborn genetic diseases, Multiple mitochondrial dysfunctions syndrome 6
Health Risk
RS151236121
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 6, PMPCB-related disorder, Inborn genetic diseases
Health Risk
RS77305684
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 6, Inborn genetic diseases, Multiple mitochondrial dysfunctions syndrome 6
Health Risk
RS145596167
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 6, Inborn genetic diseases, PMPCB-related mitochondrial disorder
Health Risk
RS2484895567
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
Health Risk
RS748505216
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
Health Risk
RS755105367
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
Health Risk
RS760746927
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
Health Risk
RS770951883
Likely pathogenic
PMPCB-related ataxia, Lung cancer, PMPCB-related ataxia
Health Risk
RS1436866272
Pathogenic
Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
Health Risk
RS1461200360
Pathogenic
Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144744182 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 6, PMPCB-related disorder, Inborn genetic diseases |
| RS146343535 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 6, Inborn genetic diseases, Multiple mitochondrial dysfunctions syndrome 6 |
| RS151236121 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 6, PMPCB-related disorder, Inborn genetic diseases |
| RS77305684 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 6, Inborn genetic diseases, Multiple mitochondrial dysfunctions syndrome 6 |
| RS145596167 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 6, Inborn genetic diseases, PMPCB-related mitochondrial disorder |
| RS2484895567 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6 |
| RS748505216 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6 |
| RS755105367 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6 |
| RS760746927 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6 |
| RS770951883 | Health Risk | Likely pathogenic | PMPCB-related ataxia, Lung cancer, PMPCB-related ataxia |
| RS1436866272 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6 |
| RS1461200360 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6 |
| RS200188353 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6 |