Gene

pmpca

ID

ZDB-GENE-030131-5809

Name

peptidase, mitochondrial processing subunit alpha

Symbol

pmpca Nomenclature History

Previous Names

wu:fi19e06
wu:fj83d11
zgc:101647

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Predicted to contribute to endopeptidase activity. Predicted to be involved in protein processing involved in protein targeting to mitochondrion. Predicted to localize to mitochondrial inner membrane and mitochondrial processing peptidase complex. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 2. Is expressed in several structures, including alar plate midbrain region; anterior neural keel; head; immature eye; and optic tectum. Orthologous to human PMPCA (peptidase, mitochondrial processing subunit alpha).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

6 figures from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:101647 (12 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pmpca Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive spinocerebellar ataxia 2	Alliance	Spinocerebellar ataxia, autosomal recessive 2	213200

Associated With pmpca Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR001431	Peptidase M16, zinc-binding site
Domain	IPR007863	Peptidase M16, C-terminal
Domain	IPR011765	Peptidase M16, N-terminal
Homologous_superfamily	IPR011249	Metalloenzyme, LuxS/M16 peptidase-like