Property Summary

NCBI Gene PubMed Count 48
Grant Count 172
R01 Count 111
Funding $22,672,560.08
PubMed Score 594.11
PubTator Score 139.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Synonym

Accession Q9UQ90 O75756 Q2TB70 Q58F00 Q96IB0
Symbols CAR
PGN
CMAR
SPG5C

Gene

PANTHER Protein Class (3)

PDB

2QZ4  

Gene RIF (26)

PMID Text
26506339 this case shows that the spectrum of pathologies in SPG7 can include neuron loss of the dentate nucleus and the inferior olivary nucleus as well as neuritic pathology.
26387735 Data indicates that SPG7 is essential for the mitochondrial permeability transition pore (PTP) complex formation, interacts with CypD and VDAC and determines C terminus of SPG7 and CsA-binding region of CypD as necessary for PTP formation.
26260707 a novel homozygous frameshift deletion in the SPG7 gene was identifies as the genetic cause of hereditary spastic paraplegia in a Greek family.
25681447 In unexplained ataxia, there was a significant number of patients with SPG7 mutations.
24767997 The SPG7 Q866 variant is efficiently processed independent of phosphorylation of AFG3L2 at Y179, which inhibits processing of SPG7.
24727571 Using an unbiased exome sequencing approach we identified pathogenic compound heterozygous SPG7 mutations in patients with PEO and multiple mitochondrial DNA deletions in skeletal muscle
23857099 A Japanese patient is reported with an SPG7 mutation for a slowly progressive form of autosomal recessive cerebellar ataxia and spastic paraplegia.
23269439 This study showed that the p.Ala510Val mutation is prevalent amongst severe hereditary spastic paraparesis patients of UK.
23065789 SPG7 mutations are a frequent cause of middle-aged onset of spastic gait when strict inclusion criteria are applied and should, therefore, be tested in autosomal recessive or sporadic hereditary spastic paraplegia.
22964162 SPG7 mutations correlate with spastic paraplegia phenotypes.
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AA Sequence

MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRALQSLQLRLLTP      1 - 70
TFEGINGLLLKQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKAPEEDEEERRRRERDDQMYRE     71 - 140
RLRTLLVIAVVMSLLNALSTSGGSISWNDFVHEMLAKGEVQRVQVVPESDVVEVYLHPGAVVFGRPRLAL    141 - 210
MYRMQVANIDKFEEKLRAAEDELNIEAKDRIPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGR    211 - 280
EGGFSAFNQLKMARFTIVDGKMGKGVSFKDVAGMHEAKLEVREFVDYLKSPERFLQLGAKVPKGALLLGP    281 - 350
PGCGKTLLAKAVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARARAPCIVYIDEIDAVGKKRSTT    351 - 420
MSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLPTLQERREIFE    421 - 490
QHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKS    491 - 560
KILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAALGFAQMLPRDQHLFTKEQLFERMCMAL    561 - 630
GGRASEALSFNEVTSGAQDDLRKVTRIAYSMVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMD    631 - 700
HEARLLVAKAYRHTEKVLQDNLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWIDAQREK    701 - 770
QDLGEEETEETQQPPLGGEEPTWPK                                                 771 - 795
//

Text Mined References (47)

PMID Year Title
27499296 2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
26506339 2015 Abnormal Paraplegin Expression in Swollen Neurites, ?- and ?-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
26387735 2015 SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.
26260707 2015 Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25681447 2015 SPG7 mutations are a common cause of undiagnosed ataxia.
25416956 2014 A proteome-scale map of the human interactome network.
24767997 2014 SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes.
24727571 2014 Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
23857099 2013 Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
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