Property Summary

NCBI Gene PubMed Count 30
Grant Count 18
R01 Count 12
Funding $2,775,779.29
PubMed Score 160.98
PubTator Score 132.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
medulloblastoma, large-cell -1.300 0.003
Atopic dermatitis -1.500 0.000
intraductal papillary-mucinous neoplasm ... 1.100 0.007
lung cancer 1.400 0.009
interstitial cystitis -1.100 0.007
psoriasis -1.700 0.000
spina bifida -2.050 0.043

Gene RIF (15)

PMID Text
26460568 a proteomic screen to identify the normal binding partners of GIG, is reported.
25533284 The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN.
24758703 This study showed that The instability of Gigaxonin causes Giant Axonal Neuropathy.
23585478 gigaxonin is a major factor in the degradation of cytoskeletal intermediate filaments
23332420 A novel missense mutation in four siblings born to consanguineous parents of Arab origin with clinical and molecular features compatible with giant axonal neuropathy.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19844255 Observational study of gene-disease association. (HuGE Navigator)
19782434 No GAN variant is identified in DNA obtained from well-characterized cases of human neuronal intermediate filament inclusion disease (frontotemporal dementia).
19168853 Study shows that the gigaxonin E3 ligase subunit is normally expressed at a very low level and that various missense and nonsense mutations scattered across the entire GAN gene produce highly unstable protein products.
18595793 a functional important part of the gigaxonin protein is altered by the AluYa5 insertion and causes giant axonal neuropathy [case report]
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AA Sequence

MAEGSAVSDPQHAARLLRALSSFREESRFCDAHLVLDGEEIPVQKNILAAASPYIRTKLNYNPPKDDGST      1 - 70
YKIELEGISVMVMREILDYIFSGQIRLNEDTIQDVVQAADLLLLTDLKTLCCEFLEGCIAAENCIGIRDF     71 - 140
ALHYCLHHVHYLATEYLETHFRDVSSTEEFLELSPQKLKEVISLEKLNVGNERYVFEAVIRWIAHDTEIR    141 - 210
KVHMKDVMSALWVSGLDSSYLREQMLNEPLVREIVKECSNIPLSQPQQGEAMLANFKPRGYSECIVTVGG    211 - 280
EERVSRKPTAAMRCMCPLYDPNRQLWIELAPLSMPRINHGVLSAEGFLFVFGGQDENKQTLSSGEKYDPD    281 - 350
ANTWTALPPMNEARHNFGIVEIDGMLYILGGEDGEKELISMECYDIYSKTWTKQPDLTMVRKIGCYAAMK    351 - 420
KKIYAMGGGSYGKLFESVECYDPRTQQWTAICPLKERRFGAVACGVAMELYVFGGVRSREDAQGSEMVTC    421 - 490
KSEFYHDEFKRWIYLNDQNLCIPASSSFVYGAVPIGASIYVIGDLDTGTNYDYVREFKRSTGTWHHTKPL    491 - 560
LPSDLRRTGCAALRIANCKLFRLQLQQGLFRIRVHSP                                     561 - 597
//

Text Mined References (32)

PMID Year Title
26460568 2015 Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy.
25533284 2015 Giant axonal disease: Report of eight cases.
25352737 2014 Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.
24758703 2014 The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
23676014 2013 Update on the Kelch-like (KLHL) gene family.
23585478 2013 Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.
23332420 2013 A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19844255 2010 Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
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