Entity Details

Primary name ASB10
Entity type gene
Source Source Link

Details

PrimaryID136371
RefseqGeneNG_017016
SymbolASB10
Nameankyrin repeat and SOCS box containing 10
Chromosome7
Location7q36.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-12-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsASB10_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016567 protein ubiquitination
GO:0035556 intracellular signal transduction
GO:0043687 post-translational protein modification

Diseases

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Disease IDSourceNameDescription
603383 OMIMGlaucoma 1, open angle, F (GLC1F)A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. The disease is caused by variants affecting the gene represented in this entry.