The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016] See more...

Aliases for PMPCA Gene

Aliases for PMPCA Gene

  • Peptidase, Mitochondrial Processing Subunit Alpha 2 3 5
  • Alpha-MPP 2 3 4
  • Mitochondrial-Processing Peptidase Subunit Alpha 3 4
  • Inositol Polyphosphate-5-Phosphatase, 72 KD 2 3
  • Cerebellar Ataxia 1 (Autosomal Recessive) 2 3
  • Inactive Zinc Metalloprotease Alpha 3 4
  • KIAA0123 2 4
  • INPP5E 3 4
  • P-55 3 4
  • Mitochondrial Matrix Processing Protease, Alpha Subunit 3
  • Peptidase, Mitochondrial Processing Alpha Subunit 3
  • Spinocerebellar Ataxia, Autosomal Recessive 2 2
  • Peptidase (Mitochondrial Processing) Alpha 2
  • Cerebellar Ataxia-1 3
  • EC 3.4.24.64 51
  • SCAR2 3
  • PMPCA 5
  • CLA1 3
  • CPD3 3
  • MPPA 4

External Ids for PMPCA Gene

Previous HGNC Symbols for PMPCA Gene

  • INPP5E
  • SCAR2
  • CLA1

Previous GeneCards Identifiers for PMPCA Gene

  • GC09P132746
  • GC09P134662
  • GC09P136580
  • GC09P138424
  • GC09P139305
  • GC09P108764

Summaries for PMPCA Gene

Entrez Gene Summary for PMPCA Gene

  • The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]

GeneCards Summary for PMPCA Gene

PMPCA (Peptidase, Mitochondrial Processing Subunit Alpha) is a Protein Coding gene. Diseases associated with PMPCA include Spinocerebellar Ataxia, Autosomal Recessive 2 and Normal Pressure Hydrocephalus. Among its related pathways are Metabolism of proteins and 3-phosphoinositide degradation. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is PMPCB.

UniProtKB/Swiss-Prot Summary for PMPCA Gene

  • Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.

Gene Wiki entry for PMPCA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PMPCA Gene

Genomics for PMPCA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PMPCA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J136408 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.1 -120 3.6 SP1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 NFKBIZ ZNF692 POLR2A BACH1 ENTR1 PMPCA piR-37148 piR-43062 INPP5E DNLZ SEC16A SNAPC4 SNHG7 GPSM1
GH09J136438 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 12.3 +28.4 28371 3.9 CREB1 ZNF629 CTCF ZNF692 POLR2A BACH1 LARP7 PRDM1 ZNF143 ZIC2 INPP5E piR-36347 piR-30910 piR-33513 piR-34042 piR-35667 piR-50069 piR-59224 SEC16A SNAPC4
GH09J136224 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 10 -184.8 -184848 3.1 HNRNPL CREB1 CTCF TEAD4 KDM1A FOXA1 ZNF143 ZIC2 ZSCAN4 PATZ1 LHX3 NACC2 ENTR1 PMPCA QSOX2 OBP2A piR-43611
GH09J136510 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.3 +101.1 101088 3.2 HNRNPL RFX1 IKZF1 ETV6 RBFOX2 PKNOX1 SP1 DPF2 HDAC1 ZNF600 SNAPC4 RABL6 EGFL7 PMPCA INPP5E DNLZ DIPK1B TRAF2 MIR4673 SEC16A
GH09J136227 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 10 -182.2 -182199 1.2 CREB1 JUND ZBTB44 FOS MNT FOSL1 FOSL2 BHLHE40 ATF3 NFATC1 QSOX2 ENTR1 PMPCA NOTCH1 piR-43611 LHX3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMPCA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PMPCA

Top Transcription factor binding sites by QIAGEN in the PMPCA gene promoter:
  • c-Myb
  • Lmo2
  • MyoD
  • NRF-2
  • p53
  • Pax-6
  • Pbx1a
  • SEF-1 (1)

Genomic Locations for PMPCA Gene

Genomic Locations for PMPCA Gene
chr9:136,410,573-136,423,761
(GRCh38/hg38)
Size:
13,189 bases
Orientation:
Plus strand
chr9:139,305,110-139,318,213
(GRCh37/hg19)
Size:
13,104 bases
Orientation:
Plus strand

Genomic View for PMPCA Gene

Genes around PMPCA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMPCA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMPCA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMPCA Gene

Proteins for PMPCA Gene

  • Protein details for PMPCA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q10713-MPPA_HUMAN
    Recommended name:
    Mitochondrial-processing peptidase subunit alpha
    Protein Accession:
    Q10713
    Secondary Accessions:
    • B4DKL3
    • E7ET61
    • Q16639
    • Q5SXM9
    • Q8N513

    Protein attributes for PMPCA Gene

    Size:
    525 amino acids
    Molecular mass:
    58253 Da
    Quaternary structure:
    • Heterodimer of PMPCA (alpha) and PMPCB (beta) subunits, forming the mitochondrial processing protease (MPP) in which PMPCA is involved in substrate recognition and binding and PMPCB is the catalytic subunit.
    SequenceCaution:
    • Sequence=AAH33103.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA04643.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA09472.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PMPCA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMPCA Gene

Selected DME Specific Peptides for PMPCA Gene

Q10713:
  • YPNIPLSSPLPGVPKP
  • RENTVGLHRFCP
  • GLESCSFLE
  • RLYLNVLNRHHWMYNATSYHHSYEDTGLLCIHASADPRQ
  • FATVDGQEKFETKVTTLDNGLRVASQNKFGQFCT
  • FSAGGPGKGM

Post-translational modifications for PMPCA Gene

  • Ubiquitination at Lys53, Lys232, Lys103, Lys269, Lys299, and Lys488
  • Modification sites at PhosphoSitePlus

Other Protein References for PMPCA Gene

Domains & Families for PMPCA Gene

Gene Families for PMPCA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PMPCA Gene

InterPro:
Blocks:
  • Insulinase-like peptidase, family M16
ProtoNet:

Suggested Antigen Peptide Sequences for PMPCA Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54999, highly similar to Mitochondrial-processing peptidase alpha subunit, mitochondrial (EC 3.4.24.64) (B4DKL3_HUMAN)
  • P-55 (MPPA_HUMAN)
  • PMPCA protein (Q24JU5_HUMAN)
  • Peptidase (Mitochondrial processing) alpha (Q5SXM9_HUMAN)
  • Peptidase (Mitochondrial processing) alpha (Q5SXN9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q10713

UniProtKB/Swiss-Prot:

MPPA_HUMAN :
  • Belongs to the peptidase M16 family.
Family:
  • Belongs to the peptidase M16 family.
genes like me logo Genes that share domains with PMPCA: view

Function for PMPCA Gene

Molecular function for PMPCA Gene

UniProtKB/Swiss-Prot Function:
Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.

Enzyme Numbers (IUBMB) for PMPCA Gene

Phenotypes From GWAS Catalog for PMPCA Gene

Gene Ontology (GO) - Molecular Function for PMPCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004175 contributes_to endopeptidase activity IBA 21873635
GO:0004222 metalloendopeptidase activity TAS 10942759
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PMPCA: view
genes like me logo Genes that share phenotypes with PMPCA: view

Human Phenotype Ontology for PMPCA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PMPCA Gene

miRTarBase miRNAs that target PMPCA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMPCA

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PMPCA Gene

Localization for PMPCA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMPCA Gene

Mitochondrion matrix. Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMPCA gene
Compartment Confidence
mitochondrion 5
extracellular 4
cytosol 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PMPCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IBA,TAS 10942759
GO:0005759 mitochondrial matrix IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PMPCA: view

Pathways & Interactions for PMPCA Gene

genes like me logo Genes that share pathways with PMPCA: view

Pathways by source for PMPCA Gene

1 BioSystems pathway for PMPCA Gene
2 Reactome pathways for PMPCA Gene

Gene Ontology (GO) - Biological Process for PMPCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS 10942759
GO:0006627 protein processing involved in protein targeting to mitochondrion IEA,IMP 25808372
GO:0006851 mitochondrial calcium ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with PMPCA: view

No data available for SIGNOR curated interactions for PMPCA Gene

Drugs & Compounds for PMPCA Gene

(1) Drugs for PMPCA Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 1594
genes like me logo Genes that share compounds with PMPCA: view

Transcripts for PMPCA Gene

mRNA/cDNA for PMPCA Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMPCA

Alternative Splicing Database (ASD) splice patterns (SP) for PMPCA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^
SP1: - - - - - - -
SP2: - - -
SP3: - - - - - - -
SP4: - -
SP5:
SP6: -
SP7: - - -
SP8: - - - -
SP9: - - - -
SP10: -
SP11: - - - - -
SP12:
SP13:
SP14: - -

ExUns: 15a · 15b · 15c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for PMPCA Gene

GeneLoc Exon Structure for
PMPCA

Expression for PMPCA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PMPCA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)
  • Ovary (Reproductive System)

Protein differential expression in normal tissues from HIPED for PMPCA Gene

This gene is overexpressed in Lymph node (8.5) and Heart (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PMPCA Gene



Protein tissue co-expression partners for PMPCA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PMPCA

SOURCE GeneReport for Unigene cluster for PMPCA Gene:

Hs.495471

mRNA Expression by UniProt/SwissProt for PMPCA Gene:

Q10713-MPPA_HUMAN
Tissue specificity: Ubiquitously expressed with highest expression in fetal tissues and adult brain, cerebellum and cerebellar vermis.

Evidence on tissue expression from TISSUES for PMPCA Gene

  • Nervous system(4.8)
  • Kidney(4.7)
  • Intestine(4.7)
  • Bone marrow(4.3)
  • Skin(3.2)
  • Blood(2.7)
  • Liver(2.7)
  • Muscle(2.4)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PMPCA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Thorax:
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • pelvis
Limb:
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PMPCA: view

No data available for mRNA differential expression in normal tissues for PMPCA Gene

Orthologs for PMPCA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PMPCA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PMPCA 30 31
  • 93.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PMPCA 30 31
  • 86.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pmpca 30
  • 86.13 (n)
Dog
(Canis familiaris)
Mammalia PMPCA 30 31
  • 85.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pmpca 30 17 31
  • 85.56 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PMPCA 31
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PMPCA 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PMPCA 30 31
  • 73.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PMPCA 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pmpca 30
  • 75.48 (n)
Str.221 30
Zebrafish
(Danio rerio)
Actinopterygii pmpca 30 31
  • 71.79 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6618 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008086 30
  • 58.12 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8728 30 31
  • 57.34 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mppa-1 30 31
  • 46.79 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAS2 30 31 33
  • 48.46 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11573g 30
  • 48.02 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0966300 30
  • 45.18 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU06270 30
  • 51.65 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mas2 30
  • 44.15 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1704 30
Species where no ortholog for PMPCA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PMPCA Gene

ENSEMBL:
Gene Tree for PMPCA (if available)
TreeFam:
Gene Tree for PMPCA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PMPCA: view image

Paralogs for PMPCA Gene

Paralogs for PMPCA Gene

(1) SIMAP similar genes for PMPCA Gene using alignment to 6 proteins:

  • MPPA_HUMAN
  • B4DKL3_HUMAN
  • Q24JU5_HUMAN
  • Q5SXN0_HUMAN
  • Q5SXN9_HUMAN
  • Q9BT52_HUMAN

Pseudogenes.org Pseudogenes for PMPCA Gene

genes like me logo Genes that share paralogs with PMPCA: view

Variants for PMPCA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PMPCA Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
711028 Likely Benign: not provided 136,412,069(+) A/G SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
711534 Likely Benign: not provided 136,423,228(+) C/T SYNONYMOUS_VARIANT
713914 Benign: not provided 136,414,579(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
715631 Likely Benign: not provided 136,417,097(+) C/T SYNONYMOUS_VARIANT
722462 Likely Benign: not provided 136,423,165(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PMPCA Gene

Structural Variations from Database of Genomic Variants (DGV) for PMPCA Gene

Variant ID Type Subtype PubMed ID
esv2676242 CNV deletion 23128226
esv2759720 CNV loss 17122850
nsv469918 CNV loss 18288195
nsv509333 CNV insertion 20534489
nsv615963 CNV loss 21841781
nsv6766 CNV insertion 18451855
nsv825173 CNV gain 20364138
nsv825174 CNV gain 20364138
nsv831760 CNV loss 17160897
nsv951202 CNV deletion 24416366

Variation tolerance for PMPCA Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PMPCA Gene

Human Gene Mutation Database (HGMD)
PMPCA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMPCA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMPCA Gene

Disorders for PMPCA Gene

MalaCards: The human disease database

(17) MalaCards diseases for PMPCA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PMPCA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MPPA_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. {ECO:0000269 PubMed:25808372, ECO:0000269 PubMed:26657514}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PMPCA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PMPCA: view

No data available for Genatlas for PMPCA Gene

Publications for PMPCA Gene

  1. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. (PMID: 25808372) Jobling RK … Yoon G (Brain : a journal of neurology 2015) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4
  4. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. (PMID: 26657514) Choquet K … Tétreault M (Brain : a journal of neurology 2016) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for PMPCA Gene

Sources for PMPCA Gene