Property Summary

NCBI Gene PubMed Count 24
Grant Count 1
R01 Count 1
Funding $154,106
PubMed Score 36.37
PubTator Score 30.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma 1.200 0.000
astrocytic glioma -1.200 0.042
oligodendroglioma 1.200 0.001
interstitial cystitis -1.100 0.000
ulcerative colitis -1.200 0.000
ovarian cancer -1.400 0.000

Synonym

Accession Q9Y4W6 Q6P1L0
Symbols SCA28
SPAX5

Gene

PANTHER Protein Class (3)

 Grant Application (1)

PDB

2LNA  

Gene RIF (15)

PMID Text
25927548 AOA2 with myoclonus associated with mutations in SETX and AFG3L2
25420100 This study that AFG3L2 mutations are another important cause, albeit rare, of a late-onset ataxic PEO phenotype due to a disturbance of mtDNA maintenance.
25251419 Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.
24814845 Identification of a partial AFG3L2 deletion and subsequent functional studies reveal loss of function as the most likely disease mechanism.
24422629 StAR proteolysis is executed by at least 2 mitochondrial proteases, the matrix LON protease and the inner membrane complexes of the metalloproteases AFG3L2 and AFG3L2:SPG7/paraplegin.
24293060 Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history.
22252130 Both full-length and truncated COX1 proteins physically interact with AFG3L2.
22022284 These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.
21827917 The mutations of SCA28 are associated with amino acid changes in evolutionarily conserved residues of the alleged SCA28 gene, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations.
20877624 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPP      1 - 70
KGFEKYFPNGKNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDD     71 - 140
KDFRMFFLWTALFWGGVMFYLLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQ    141 - 210
YVWFNIGSVDTFERNLETLQQELGIEGENRVPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGR    211 - 280
TGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPKGAILTGPP    281 - 350
GTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNAPCILFIDEIDAVGRKRGRGN    351 - 420
FGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDIKGRASIFKVH    421 - 490
LRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT    491 - 560
QVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLG    561 - 630
GRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDE    631 - 700
VRILINDAYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDT    701 - 770
SLPEGLKDWNKEREKEKEEPPGEKVAN                                               771 - 797
//

Text Mined References (28)

PMID Year Title
27642048 2016 The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria.
27499296 2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
26677414 2015 Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25927548 2015 An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
25420100 2015 Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.
25251419 2014 Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.
24814845 2014 Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
24422629 2014 StAR enhances transcription of genes encoding the mitochondrial proteases involved in its own degradation.
24293060 2014 A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
More...