Entity Details

Primary name ARMC5
Entity type gene
Source Source Link

Details

PrimaryID79798
RefseqGeneNG_034258
SymbolARMC5
Namearmadillo repeat containing 5
Chromosome16
Location16p11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsARMC5_HUMAN

GO terms

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GOName
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005925 focal adhesion

Diseases

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Disease IDSourceNameDescription
615954 OMIMACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2)A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. The disease is caused by variants affecting the gene represented in this entry.

Interactions

17 interactions