PMPCB - peptidase, mitochondrial processing subunit beta Gene

Homo sapiens

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

Gene ID: 9512 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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