PMPCB - peptidase, mitochondrial processing subunit beta Gene

Also Known as MAS1; MPPB; P-52; MPP11; MPPP52; Beta-MPP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9512

About PMPCB

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:103,297,435-103,347,542 (from NCBI)

This gene has 8 transcripts (splice variants), 215 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 16.7), kidney (RPKM 15.9) and 25 other tissues.

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. [provided by RefSeq, Jul 2008]

PMPCB Products (1)

mRNA	Protein	Name
NM_004279.3	NP_004270.2	mitochondrial-processing peptidase subunit beta precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables metalloendopeptidase activity	IDA IDA: Inferred from direct assay	22354088	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein processing involved in protein targeting to mitochondrion	IDA IDA: Inferred from direct assay	22354088	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	22354088	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PMPCB Protein Structure

Peptidase_M16

Peptidase_M16_C

0
100
200
300
400
489 a.a.

Protein Preferred Names	Protein Names
mitochondrial-processing peptidase subunit beta	mitochondrial processing peptidase beta subunit

Related Diseases

Diseases	Alias
Multiple Mitochondrial Dysfunctions Syndrome 6	MMDS6 Multiple Mitochondrial Dysfunctions Syndrome Type 6 Pmpcb Deficiency
Multiple Mitochondrial Dysfunctions Syndrome	Fatal Multiple Mitochondrial Dysfunctions Syndrome Fatal Multiple Mitochondrial Dysfunction Syndrome Mmds Multiple Mitochondrial Dysfunction Syndrome Mitochondrial Dysfunctions, Multiple, Syndrome Multiple Mitochondrial Dysfunctions Syndrome 1
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 11 CMS11 Cms Ie Cms1e Myasthenic Syndrome, Congenital, Ie Myasthenic Syndrome, Congenital, Ie, Formerly Cms1e, Formerly Cms Ie, Formerly Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome 1e Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency
Ciliary Dyskinesia, Primary, 27	Primary Ciliary Dyskinesia 27 CILD27 Ciliary Dyskinesia, Primary, 27, Without Situs Inversus Primary Ciliary Dyskinesia 27 Without Situs Inversus Primary Ciliary Dyskinesia 27 With Or Without Situs Inversus Dyskinesia, Ciliary, Primary, 27
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	SMDMDM Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type Chondrodysplasia, Megarbane-Dagher-Melki Type Megarbane-Dagher-Melike Type Chondrodysplasia Chondrodysplasia, Megarbane-Dagher-Melike Type Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type
Atrial Septal Defect 6	ASD6 Atrial Heart Septal Defect 6 Septal Defect, Atrial, Type 6
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic Cardiomyopathy 26 CMH26 Cardiomyopathy, Familial Restrictive 5 Cardiomyopathy, Familial Restrictive, 5 Cardiomyopathy Familial Hypertrophic 26 Cardiomyopathy, Familial Hypertrophic 26 RCM5
Codas Syndrome	Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome Cerebrooculodentoauriculoskeletal Syndrome CODASS Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Space Motion Sickness
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10771	PMPCB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PMPCB	VGNC	VGNC:76195
Rattus norvegicus	PMPCB	RGD	RGD:621297
Bos taurus	PMPCB	VGNC	VGNC:33076
Canis familiaris	PMPCB	VGNC	VGNC:44737
Mus musculus	PMPCB	MGD	MGI:1920328
Felis catus	PMPCB	VGNC	VGNC:68923
Others	PMPCB	NCBI