Entity Details

Primary name RCBTB1
Entity type gene
Source Source Link

Details

PrimaryID55213
RefseqGeneNG_046892
SymbolRCBTB1
NameRCC1 and BTB domain containing protein 1
Chromosome13
Location13q14.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRCBT1_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006325 chromatin organization
GO:0007049 cell cycle

Diseases

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Disease IDSourceNameDescription
617175 OMIMRetinal dystrophy with or without extraocular anomalies (RDEOA)An autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency. The disease is caused by variants affecting the gene represented in this entry.