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Aliases for SPG7 Gene

Aliases for SPG7 Gene

  • SPG7, Paraplegin Matrix AAA Peptidase Subunit 2 3 5
  • Cell Matrix Adhesion Regulator 2 3 4
  • Spastic Paraplegia 7 (Pure And Complicated Autosomal Recessive) 2 3
  • Spastic Paraplegia 7 Protein 3 4
  • Paraplegin 2 3
  • CMAR 3 4
  • CAR 3 4
  • PGN 3 4
  • EC 3.4.24.- 4
  • EC 3.4.24 56
  • SPG5C 3

External Ids for SPG7 Gene

Previous HGNC Symbols for SPG7 Gene

  • CMAR

Previous GeneCards Identifiers for SPG7 Gene

  • GC16P080894
  • GC16P090562
  • GC16P089276
  • GC16P089318
  • GC16P088102
  • GC16P089574
  • GC16P075270
  • GC16P089559

Summaries for SPG7 Gene

Entrez Gene Summary for SPG7 Gene

  • This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

GeneCards Summary for SPG7 Gene

SPG7 (SPG7, Paraplegin Matrix AAA Peptidase Subunit) is a Protein Coding gene. Diseases associated with SPG7 include Spastic Paraplegia 7, Autosomal Recessive and Primary Lateral Sclerosis, Adult, 1. Gene Ontology (GO) annotations related to this gene include ATPase activity and metalloendopeptidase activity. An important paralog of this gene is AFG3L2.

UniProtKB/Swiss-Prot for SPG7 Gene

  • ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735).

Gene Wiki entry for SPG7 Gene

Additional gene information for SPG7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPG7 Gene

Genomics for SPG7 Gene

GeneHancer (GH) Regulatory Elements for SPG7 Gene

Promoters and enhancers for SPG7 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
GH16I089503 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 585 +16.1 16066 6.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 SPG7 LOC101927863 AFG3L1P MC1R RPL13 ENSG00000268218 ANKRD11 ZC3H18 TCF25 ACSF3
GH16I089480 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 27.9 -4.2 -4163 12 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF548 ANKRD11 SPG7 ZNF778 ZC3H18 AFG3L1P MC1R ENSG00000259877 RPL13 TCF25 RNU6-430P
GH16I089558 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 23.9 +71.7 71709 7.9 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC RPL13 SNORD68 GC16P089560 GC16P089561 PIR32702 AFG3L1P ANKRD11 TCF25 ENSG00000268218 ENSG00000259877
GH16I088502 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 24.1 -984.0 -984032 9 PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ENSG00000259877 LOC101927863 SPG7 ZC3H18 ANKRD11 ENSG00000268218 ENSG00000260121 ACSF3 ENSG00000260279 GALNS
GH16I089825 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.2 +337.4 337392 5.2 FOXA2 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 ZNF766 SPIRE2 CDK10 FANCA AFG3L1P SPG7 MC1R ZNF778 ENSG00000268218 ENSG00000260279 LOC101927863
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPG7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPG7 gene promoter:

Genomic Locations for SPG7 Gene

Genomic Locations for SPG7 Gene
chr16:89,490,917-89,557,768
(GRCh38/hg38)
Size:
66,852 bases
Orientation:
Plus strand
chr16:89,557,325-89,624,176
(GRCh37/hg19)

Genomic View for SPG7 Gene

Genes around SPG7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPG7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPG7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPG7 Gene

Proteins for SPG7 Gene

  • Protein details for SPG7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQ90-SPG7_HUMAN
    Recommended name:
    Paraplegin
    Protein Accession:
    Q9UQ90
    Secondary Accessions:
    • O75756
    • Q2TB70
    • Q58F00
    • Q96IB0

    Protein attributes for SPG7 Gene

    Size:
    795 amino acids
    Molecular mass:
    88235 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Forms heterooligomers with AFG3L1 and AFG3L2 (By similarity). Component of the mitochondrial permeability transition pore complex (mPTPC), at least composed of SPG7, VDAC1 and PPIF (PubMed:26387735). Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I (PubMed:14623864, PubMed:26387735). Interacts with AFG3L1 (By similarity). Interacts with MAIP1 (PubMed:27499296). Interacts with VDAC1 and PPIF (PubMed:26387735).
    SequenceCaution:
    • Sequence=AAH35929.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BC007692; Type=Erroneous termination; Positions=428; Note=Translated as Glu.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPG7 Gene

    Alternative splice isoforms for SPG7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPG7 Gene

Selected DME Specific Peptides for SPG7 Gene

Q9UQ90:
  • TLNQLLVE
  • GAQDDLRKVT
  • TPGFSGA

Post-translational modifications for SPG7 Gene

  • Upon import into the mitochondrion, the N-terminal transit peptide is cleaved by the mitochondrial-processing peptidase (MPP) to generate an intermediate form which undergoes a second proteolytic cleavage mediated by proteases AFG3L1 and/or AFG3L2 removing an additional N-terminal fragment to generate the proteolytically active mature form.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SPG7 Gene

Gene Families for SPG7 Gene

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

Suggested Antigen Peptide Sequences for SPG7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQ90

UniProtKB/Swiss-Prot:

SPG7_HUMAN :
  • In the N-terminal section; belongs to the AAA ATPase family.
Family:
  • In the N-terminal section; belongs to the AAA ATPase family.
  • In the C-terminal section; belongs to the peptidase M41 family.
genes like me logo Genes that share domains with SPG7: view

Function for SPG7 Gene

Molecular function for SPG7 Gene

GENATLAS Biochemistry:
paraplegin,nuclear-encoded mitochondrial metalloprotease with homology to yeast AFG3 of the AAA family (adenosine triphosphatases associated with diverse activities),potentially involved in the turnover of mitochondrial proteins,expressed in central nervous system,specifically in amygdalia,caudate nucleus,thalamus subthalmic nucleus and spinal cord
UniProtKB/Swiss-Prot Function:
ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735).

Enzyme Numbers (IUBMB) for SPG7 Gene

Phenotypes From GWAS Catalog for SPG7 Gene

Gene Ontology (GO) - Molecular Function for SPG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IDA,IEA 11549317
GO:0005515 protein binding IPI 14623864
GO:0005524 ATP binding IEA --
GO:0008233 peptidase activity TAS 9635427
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with SPG7: view
genes like me logo Genes that share phenotypes with SPG7: view

Human Phenotype Ontology for SPG7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPG7 Gene

MGI Knock Outs for SPG7:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for SPG7 Gene

Localization for SPG7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPG7 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

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 SPG7 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SPG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 9635427
GO:0005743 mitochondrial inner membrane TAS --
GO:0005745 m-AAA complex IEA --
GO:0005757 mitochondrial permeability transition pore complex IDA 26387735
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SPG7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPG7 Gene

Pathways & Interactions for SPG7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006851 mitochondrial calcium ion transmembrane transport TAS --
GO:0007005 mitochondrion organization IEA --
GO:0007399 nervous system development TAS 9635427
GO:0008089 anterograde axonal transport IEA --
genes like me logo Genes that share ontologies with SPG7: view

No data available for Pathways by source and SIGNOR curated interactions for SPG7 Gene

Drugs & Compounds for SPG7 Gene

(9) Drugs for SPG7 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2040
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents 1195
anthracyclines and related substances Pharma 0

(1) Additional Compounds for SPG7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SPG7: view

Transcripts for SPG7 Gene

Unigene Clusters for SPG7 Gene

Spastic paraplegia 7 (pure and complicated autosomal recessive):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPG7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15 ^ 16 ^
SP1: - - - - - - - - - -
SP2: - - -
SP3: -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10: -
SP11: - -
SP12: -
SP13: -
SP14: - -
SP15:
SP16:
SP17: -
SP18:

ExUns: 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b · 20c · 20d ^ 21a · 21b · 21c ^ 22a · 22b · 22c · 22d ^ 23a · 23b · 23c ^ 24 ^ 25a · 25b · 25c · 25d
SP1: - - - - - - - -
SP2:
SP3:
SP4: - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - -
SP9:
SP10:
SP11: - - - -
SP12:
SP13:
SP14:
SP15: - -
SP16: - -
SP17:
SP18:

Relevant External Links for SPG7 Gene

GeneLoc Exon Structure for
SPG7
ECgene alternative splicing isoforms for
SPG7

Expression for SPG7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPG7 Gene

Protein differential expression in normal tissues from HIPED for SPG7 Gene

This gene is overexpressed in Plasma (12.7) and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPG7 Gene



Protein tissue co-expression partners for SPG7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPG7 Gene:

SPG7

SOURCE GeneReport for Unigene cluster for SPG7 Gene:

Hs.185597

mRNA Expression by UniProt/SwissProt for SPG7 Gene:

Q9UQ90-SPG7_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SPG7 Gene

  • Intestine(4.5)
  • Nervous system(4.3)
  • Lung(3.3)
  • Skin(2.7)
  • Spleen(2.7)
  • Kidney(2.6)
  • Blood(2.5)
  • Lymph node(2.4)
  • Muscle(2.4)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPG7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • prostate
  • urethra
  • urinary bladder
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SPG7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SPG7 Gene

Orthologs for SPG7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SPG7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPG7 33 34
  • 97.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPG7 34
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPG7 33 34
  • 86.72 (n)
dog
(Canis familiaris)
Mammalia SPG7 33 34
  • 85.13 (n)
mouse
(Mus musculus)
Mammalia Spg7 33 16 34
  • 85.13 (n)
rat
(Rattus norvegicus)
Mammalia Spg7 33
  • 84.98 (n)
oppossum
(Monodelphis domestica)
Mammalia SPG7 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPG7 33 34
  • 71.96 (n)
lizard
(Anolis carolinensis)
Reptilia SPG7 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spg7 33
  • 73.07 (n)
Str.4154 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9629 33
zebrafish
(Danio rerio)
Actinopterygii spg7 33 34
  • 73 (n)
wufd15f08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9013 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000560 33
  • 59.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2658 33 34
  • 59.62 (n)
EG:100G10.7 35
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea Y38F2AR.7 35
  • 60 (a)
Y47C4A.1 35
  • 60 (a)
ppgn-1 33 34
  • 53.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG3 34
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToOne
Species where no ortholog for SPG7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • 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 SPG7 Gene

ENSEMBL:
Gene Tree for SPG7 (if available)
TreeFam:
Gene Tree for SPG7 (if available)

Paralogs for SPG7 Gene

Paralogs for SPG7 Gene

genes like me logo Genes that share paralogs with SPG7: view

Variants for SPG7 Gene

Sequence variations from dbSNP and Humsavar for SPG7 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1060503425 pathogenic, Spastic paraplegia 7 89,531,961(+) GG/AGC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1060503429 uncertain-significance, Spastic paraplegia 7 89,530,753(+) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs111475461 benign, uncertain-significance, not specified, Spastic paraplegia 7, Spastic Paraplegia, Recessive 89,546,665(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs111725561 uncertain-significance, Spastic Paraplegia, Recessive 89,557,455(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs112379588 benign, uncertain-significance, not specified, Spastic Paraplegia, Recessive 89,553,147(+) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPG7 Gene

Variant ID Type Subtype PubMed ID
esv1246626 CNV deletion 17803354
esv2715166 CNV deletion 23290073
esv2715167 CNV deletion 23290073
esv2715168 CNV deletion 23290073
esv2758670 CNV gain 17122850
esv3639584 CNV loss 21293372
esv3639585 CNV loss 21293372
esv3639586 CNV gain 21293372
esv3639587 CNV loss 21293372
esv3639588 CNV gain 21293372
nsv1063483 CNV gain 25217958
nsv1066382 CNV gain 25217958
nsv1150246 CNV insertion 26484159
nsv428331 CNV gain+loss 18775914
nsv471118 CNV gain 18288195
nsv477336 CNV novel sequence insertion 20440878
nsv482951 CNV loss 15286789
nsv509639 CNV insertion 20534489
nsv573738 CNV loss 21841781

Variation tolerance for SPG7 Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.54; 86.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPG7 Gene

Human Gene Mutation Database (HGMD)
SPG7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPG7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPG7 Gene

Disorders for SPG7 Gene

MalaCards: The human disease database

(25) MalaCards diseases for SPG7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 7, autosomal recessive
  • spg7
primary lateral sclerosis, adult, 1
  • pls
mitochondrial metabolism disease
  • mitochondrial diseases
mitochondrial disorders
  • mitochondrial encephalomyopathies
paraplegia
  • paraplegia, lower
- elite association - COSMIC cancer census association via MalaCards
Search SPG7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPG7_HUMAN
  • Note=Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. {ECO:0000269 PubMed:20579626}.
  • Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions. {ECO:0000269 PubMed:16534102, ECO:0000269 PubMed:17646629, ECO:0000269 PubMed:20186691, ECO:0000269 PubMed:27217339, ECO:0000269 PubMed:9635427}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SPG7 Gene

spastic paraplegia 7,pure and complicated forms,autosomal recessive,characterized by optic,cortical and cerebellar atrophy,associated with a defect in oxidative phosphorylation,late onset

Additional Disease Information for SPG7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPG7: view

Publications for SPG7 Gene

  1. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. (PMID: 9635427) Casari G … Ballabio A (Cell 1998) 2 3 4 22 58
  2. Functional evaluation of paraplegin mutations by a yeast complementation assay. (PMID: 20186691) Bonn F … Mannan AU (Human mutation 2010) 3 4 22 58
  3. Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7. (PMID: 19841671) Karlberg T … Schüler H (PloS one 2009) 3 4 22 58
  4. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. (PMID: 18799786) Brugman F … van den Berg LH (Neurology 2008) 3 22 44 58
  5. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. (PMID: 17420921) DeLuca GC … Ebers GC (Journal of neurology 2007) 3 22 44 58

Products for SPG7 Gene

Sources for SPG7 Gene