PMPCB gene

peptidase, mitochondrial processing beta subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Catalytic subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins (PubMed:29576218). Most MPP cleavage sites follow an arginine at position -2.

From NCBI Gene:

  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6

From UniProt:

Multiple mitochondrial dysfunctions syndrome 6 (MMDS6): An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. [MIM:617954]

Cytogenetic Location: 7q22.1, which is the long (q) arm of chromosome 7 at position 22.1

Molecular Location: base pairs 103,297,426 to 103,329,902 on chromosome 7 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 7q22.1, which is the long (q) arm of chromosome 7 at position 22.1
  • Beta-MPP
  • MPP11
  • MPPB
  • MPPP52
  • P-52