MYORG myogenesis regulating glycosidase

Gene ID: 57462, updated on 17-Sep-2024
Gene type: protein coding
Also known as: IBGC7; NET37; KIAA1161

Summary

Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Involved in skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Implicated in basal ganglia calcification. [provided by Alliance of Genome Resources, Apr 2022]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Basal ganglia calcification, idiopathic, 7, autosomal recessive MedGen: C5193025OMIM: 618317GeneReviews: Not available	See labs

Genomic context

Location:: 9p13.3

Sequence:: Chromosome: 9; NC_000009.12 (34366666..34376898, complement)

Total number of exons:: 2

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MYORG variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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