MYORG gene

myogenesis regulating glycosidase (putative)

The information on this page was automatically extracted from online scientific databases.

From UniProt:

Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2.

Covered on Genetics Home Reference:

From NCBI Gene:

  • BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE

From UniProt:

Basal 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. [MIM:618317]

Cytogenetic Location: 9p13.3, which is the short (p) arm of chromosome 9 at position 13.3

Molecular Location: base pairs 34,366,149 to 34,376,952 on chromosome 9 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 9p13.3, which is the short (p) arm of chromosome 9 at position 13.3
  • IBGC7
  • KIAA1161
  • NET37