Entity Details

Primary name TBC1D23
Entity type gene
Source Source Link

Details

PrimaryID55773
RefseqGene
SymbolTBC1D23
NameTBC1 domain family member 23
Chromosome3
Location3q12.1-q12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTBC23_HUMAN

GO terms

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GOName
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0007420 brain development
GO:0016192 vesicle-mediated transport
GO:0031175 neuron projection development
GO:0031410 cytoplasmic vesicle
GO:0042147 retrograde transport, endosome to Golgi
GO:0099041 vesicle tethering to Golgi
GO:1990403 embryonic brain development

Diseases

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Disease IDSourceNameDescription
617695 OMIMPontocerebellar hypoplasia 11 (PCH11)A non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.