Entity Details

Primary name GREB1L
Entity type gene
Source Source Link

Details

PrimaryID80000
RefseqGene
SymbolGREB1L
NameGREB1 like retinoic acid receptor coactivator
Chromosome18
Location18q11.1-q11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-12

Ontological Relatives

UniProt IDsGRB1L_HUMAN

GO terms

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GOName
GO:0001822 kidney development
GO:0007275 multicellular organism development
GO:0016021 integral component of membrane

Diseases

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Disease IDSourceNameDescription
617805 OMIMRenal hypodysplasia/aplasia 3 (RHDA3)A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease. The disease is caused by variants affecting the gene represented in this entry.

Interactions

10 interactions