Details for: AFG3L2
Associated with
Other Information
Genular Protein ID: 1523884383
Symbol: AFG32_HUMAN
Name: Paraplegin-like protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10395799
Title: Identification and characterization of AFG3L2, a novel paraplegin-related gene.
PubMed ID: 10395799
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 14623864
Title: Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
PubMed ID: 14623864
PubMed ID: 17101804
Title: Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.
PubMed ID: 17101804
DOI: 10.1128/mcb.01470-06
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22354088
Title: Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment.
PubMed ID: 22354088
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 26387735
Title: SPG7 is an essential and conserved component of the mitochondrial permeability transition pore.
PubMed ID: 26387735
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 27499296
Title: Mitochondrial protein interaction mapping identifies regulators of respiratory chain function.
PubMed ID: 27499296
PubMed ID: 27642048
Title: The m-AAA protease associated with neurodegeneration limits MCU activity in mitochondria.
PubMed ID: 27642048
PubMed ID: 35912435
Title: Regulation of mitochondrial proteostasis by the proton gradient.
PubMed ID: 35912435
PubMed ID: 20354562
Title: Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
PubMed ID: 20354562
DOI: 10.1038/ejhg.2010.40
PubMed ID: 20725928
Title: Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias.
PubMed ID: 20725928
DOI: 10.1002/humu.21342
PubMed ID: 20208537
Title: Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
PubMed ID: 20208537
DOI: 10.1038/ng.544
PubMed ID: 22022284
Title: Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
PubMed ID: 22022284
PubMed ID: 24293060
Title: A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
PubMed ID: 24293060
PubMed ID: 26677414
Title: Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
PubMed ID: 26677414
PubMed ID: 26539208
Title: A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
PubMed ID: 26539208
PubMed ID: 29181157
Title: Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
PubMed ID: 29181157
DOI: 10.3892/br.2017.987
PubMed ID: 29053796
Title: Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
PubMed ID: 29053796
DOI: 10.1093/brain/awx251
PubMed ID: 30252181
Title: Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
PubMed ID: 30252181
DOI: 10.1002/humu.23658
PubMed ID: 32600459
Title: A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
PubMed ID: 32600459
PubMed ID: 32219868
Title: ATPase domain AFG3L2 mutations alter OPA1 processing and cause optic neuropathy.
PubMed ID: 32219868
DOI: 10.1002/ana.25723
PubMed ID: 32548275
Title: Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
PubMed ID: 32548275
Sequence Information:
- Length: 797
- Mass: 88584
- Checksum: EACBB7C5F2EE5E08
- Sequence:
MAHRCLRLWG RGGCWPRGLQ QLLVPGGVGP GEQPCLRTLY RFVTTQARAS RNSLLTDIIA AYQRFCSRPP KGFEKYFPNG KNGKKASEPK EVMGEKKESK PAATTRSSGG GGGGGGKRGG KKDDSHWWSR FQKGDIPWDD KDFRMFFLWT ALFWGGVMFY LLLKRSGREI TWKDFVNNYL SKGVVDRLEV VNKRFVRVTF TPGKTPVDGQ YVWFNIGSVD TFERNLETLQ QELGIEGENR VPVVYIAESD GSFLLSMLPT VLIIAFLLYT IRRGPAGIGR TGRGMGGLFS VGETTAKVLK DEIDVKFKDV AGCEEAKLEI MEFVNFLKNP KQYQDLGAKI PKGAILTGPP GTGKTLLAKA TAGEANVPFI TVSGSEFLEM FVGVGPARVR DLFALARKNA PCILFIDEID AVGRKRGRGN FGGQSEQENT LNQLLVEMDG FNTTTNVVIL AGTNRPDILD PALLRPGRFD RQIFIGPPDI KGRASIFKVH LRPLKLDSTL EKDKLARKLA SLTPGFSGAD VANVCNEAAL IAARHLSDSI NQKHFEQAIE RVIGGLEKKT QVLQPEEKKT VAYHEAGHAV AGWYLEHADP LLKVSIIPRG KGLGYAQYLP KEQYLYTKEQ LLDRMCMTLG GRVSEEIFFG RITTGAQDDL RKVTQSAYAQ IVQFGMNEKV GQISFDLPRQ GDMVLEKPYS EATARLIDDE VRILINDAYK RTVALLTEKK ADVEKVALLL LEKEVLDKND MVELLGPRPF AEKSTYEEFV EGTGSLDEDT SLPEGLKDWN KEREKEKEEP PGEKVAN
Genular Protein ID: 1782704397
Symbol: Q8TA92_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 812
- Mass: 90194
- Checksum: 781016A9C82F362A
- Sequence:
GAGGRRRRVE SLGSSVSRRR ASLPGGLSPS RARFPRPPVV ACPRLREQPC LRTLYRFVTT QARASRNSLL TDIIAAYQRF CSRPPKGFEK YFPNGKNGKK ASEPKEVMGE KKESKPAATT RSSGGGGGGG GKRGGKKDDS HWWSRFQKGD IPWDDKDFRM FFLWTALFWG GVMFYLLLKR SGREITWKDF VNNYLSKGVV DRLEVVNKRF VRVTFTPGKT PVDGQYVWFN IGSVDTFERN LETLQQELGI EGENRVPVVY IAESDGSFLL SMLPTVLIIA FLLYTIRRGP AGIGRTGRGM GGLFSVGETT AKVLKDEIDV KFKDVAGCEE AKLEIMEFVN FLKNPKQYQD LGAKIPKGAI LTGPPGTGKT LLAKATAGEA NVPFITVSGS EFLEMFVGVG PARVRDLFAL ARKNAPCILF IDEIDAVGRK RGRGNFGGQS EQENTLNQLL VEMDGFNTTT NVVILAGTNR PDILDPALLR PGRFDRQIFI GPPDIKGRAS IFKVHLRPLK LDSTLEKDKL ARKLASLTPG FSGADVANVC NEAALIAARH LSDSINQKHF EQAIERVIGG LEKKTQVLQP EEKKTVAYHE AGHAVAGWYL EHADPLLKVS IIPRGKGLGY AQYLPKEQYL YTKEQLLDRM CMTLGGRVSE EIFFGRITTG AQDDLRKVTQ SAYAQIVQFG MNEKVGQISF DLPRQGDMVL EKPYSEATAR LIDDEVRILI NDAYKRTVAL LTEKKADVEK VALLLLEKEV LDKNDMVELL GPRPFAEKST YEEFVEGTGS LDEDTSLPEG LKDWNKEREK EKEEPPGEKV AN
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.