AlphaFold predicted structure
PMPCB · O75439
Mean pLDDT
87.3/ 100
Confident
489 residues
Confidence breakdown
- Very high(≥ 90)79%
- Confident(70–90)8%
- Low(50–70)4%
- Very low(< 50)10%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PMPCB
Chr 7q22.1peptidase, mitochondrial processing subunit beta
- Aliases:
- MPPB, MPPP52, MAS1, beta-MPP
- MANE:
- ENST00000249269.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
multiple mitochondrial dysfunctions syndrome 6
0.82neurodegenerative disease
0.53hereditary disease
0.38ovarian dysfunction
0.22type 2 diabetes mellitus
0.04open-angle glaucoma
0.03diverticular disease
0.02Abnormality of the skeletal system
0.02breast cancer
0.02breast carcinoma
0.02
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Mitochondrial-processing peptidase subunit beta
Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (Probable) (PubMed:29576218). Preferentially, cleaves after an arginine at position P2 (By similarity). Required for PINK1 turnover by coupling PINK1 mitochondrial import and cleavage, which results in subsequent PINK1 proteolysis (PubMed:22354088)