Entity Details

Primary name MYORG
Entity type gene
Source Source Link

Details

PrimaryID57462
RefseqGene
SymbolMYORG
Namemyogenesis regulating glycosidase (putative)
Chromosome9
Location9p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMYORG_HUMAN

GO terms

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GOName
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0005789 endoplasmic reticulum membrane
GO:0005975 carbohydrate metabolic process
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane
GO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway
GO:0048741 skeletal muscle fiber development
GO:0051897 positive regulation of protein kinase B signaling

Diseases

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Disease IDSourceNameDescription
618317 OMIMBasal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7)A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. The disease is caused by variants affecting the gene represented in this entry.

Interactions

18 interactions