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Gan Gene Detail
Summary
  • Symbol
    Gan
  • Name
    giant axonal neuropathy
  • Synonyms
    gigaxonin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890619
    NCBI Gene: 209239
  • Gene Overview
    MyGene.info: GAN
Location & Maps
more
  • Sequence Map
    Chr8:117158137-117215997 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      57861 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GAN, gigaxonin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GAN, gigaxonin
    Orthology source: HomoloGene
  • Synonyms
    GAN1, KLHL16
  • Links
    NCBI Gene ID: 8139
    neXtProt AC: NX_Q9H2C0

  • Chr Location
    16q24.1; chr16:81314966-81380198 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Gan mouse models; 1 with human GAN associations

Human Disease Mouse Models
       Giant Axonal Neuropathy 1, Autosomal Recessive; GAN1   OMIM: 256850 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 2 alleles in 2 genetic backgrounds
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Gene trapped
    5
  • Targeted
    5
  • Incidental Mutations
    APF
Null homozygotes display some muscular atrophy and motor neuron degeneration with the severity of these symptoms depending on genotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033779 VEGA Gene Model | MGI Sequence Detail 57861 C57BL/6J ±  kb
transcript OTTMUST00000085106 VEGA | MGI Sequence Detail 13461 Not Applicable  
polypeptide OTTMUSP00000045937 VEGA | MGI Sequence Detail 597 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    251 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 13
    cDNA 11
    Primer pair 1
    Other 1

    Microarray probesets 2
References
more
  • Summaries
    All 35
    Developmental Gene Expression 2
    Diseases 3
    Gene Ontology 4
    Phenotypes 9
  • Earliest
    J:71328 Bomont P, et al., The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet. 2000 Nov;26(3):370-4
  • Latest
    J:201454 Mahammad S, et al., Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest. 2013 May 1;123(5):1964-75

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory