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Symbol report for PMPCA

HGNC data for PMPCA

Approved symbol
PMPCA
Approved name

peptidase, mitochondrial processing subunit alpha

Locus type
gene with protein product
HGNC ID
HGNC:18667
Symbol status
Approved
Previous symbols
INPP5E
SCAR2
CLA1
Previous names
inositol polyphosphate-5-phosphatase, 72 kD
peptidase (mitochondrial processing) alpha
spinocerebellar ataxia, autosomal recessive 2
cerebellar ataxia 1 (autosomal recessive)
Alias symbols
KIAA0123
Alpha-MPP
MAS2
Chromosomal location
9q34.3
Gene groups
Curator notes

This gene was previously named INPP5E due to an annotation error; this previous symbol has been removed to avoid confusion with the unrelated gene approved as INPP5E.
Gene resources for PMPCA
Ensembl
ENSG00000165688 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
23203 Curated
UCSC
uc004chl.5
Alliance of Genome Resources
HGNC:18667
Nucleotide resources for PMPCA
MANE Select
NM_015160.3
ENST00000371717.8
INSDC
D21064 Curated
ENAGenBankDDBJ
RefSeq
NM_015160 Curated
NCBI sequence viewer
CCDS
CCDS35180 Curated
Protein resources for PMPCA
UniProt/Swiss-Prot
Q10713
InterProPDBeReactome
AlphaFold
AF-Q10713-F1
Orthologs from selected species for PMPCA
Bos taurus
PMPCA VGNC:33075 VGNC
Canis familiaris
PMPCA VGNC:44736 VGNC
Equus caballus
PMPCA VGNC:21616 VGNC
Felis catus
PMPCA VGNC:64257 VGNC
Macaca mulatta
PMPCA VGNC:76062 VGNC
Mus musculus
Pmpca MGI:1918568 Curated
Pan troglodytes
PMPCA VGNC:9188 VGNC
Rattus norvegicus
Pmpca RGD:727897
Sus scrofa
PMPCA VGNC:91591 VGNC
Clinical resources for PMPCA
OMIM
613036
GenCC
HGNC:18667
MedlinePlus
Search via PMPCA
DECIPHER
Search via PMPCA
ClinGen
Search via HGNC:18667
Genetic Testing Registry
Search via NCBI Gene ID 23203
ClinVar
Search via NCBI Gene ID 23203
dbVar
Search via NCBI Gene ID 23203
Orphanet
434440
Other resources for PMPCA
AmiGO
Search via Q10713
QuickGO
Search via Q10713
BioGPS
Search via NCBI Gene ID 23203
GeneCards
Search via HGNC:18667
Monarch
Search via HGNC:18667
WikiGenes
Search via NCBI Gene ID 23203
References for PMPCA