MYORG
Myogenesis Regulating Glycosidase (Putative)
Gene Information Card
| Symbol | MYORG |
|---|---|
| Full Name | Myogenesis Regulating Glycosidase (Putative) |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 57462 ncbi.nlm.nih.gov/gene/57462 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q6N021 |
| OMIM ID | 618255 |
| HGNC ID | 26263 |
| Aliases | C9orf36, FLJ13111, NET37 |
Description
MYORG (myogenesis regulating glycosidase) is a protein-coding gene located on chromosome 9p13.3. It encodes a putative glycosidase enzyme involved in myogenesis and cellular differentiation. Mutations in MYORG have been associated with primary familial brain calcification (PFBC), also known as Fahr disease. The gene is expressed in multiple tissues, with notable levels in the brain and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Familial Brain Calcification (PFBC) | Loss-of-function mutations in MYORG impair glycosidase activity, leading to abnormal calcium deposition in the brain. | PMID: 30007419, ClinVar |
| Fahr Disease | Biallelic MYORG mutations cause autosomal recessive PFBC, characterized by bilateral basal ganglia calcification. | OMIM #618255 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Skeletal Muscle | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 10.1 | Glial model |
| HepG2 (hepatocellular carcinoma) | 5.4 | Hepatic model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.676C>T (p.Arg226*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
| c.1048G>A (p.Gly350Arg) | Missense | Rare | Likely loss of function; impaired glycosidase activity |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in MYORG cause autosomal recessive primary familial brain calcification.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • glycosidase activity | • carbohydrate metabolic process |
| • endoplasmic reticulum | • myoblast differentiation |
Pathways
• Glycosphingolipid biosynthesis
• N-Glycan biosynthesis
Protein Summary
The MYORG protein is a putative glycosidase localized to the endoplasmic reticulum. It is predicted to hydrolyze glycosidic bonds in glycoproteins or glycolipids, playing a role in cellular differentiation, particularly in myogenesis and neuronal function. Loss of function leads to calcium homeostasis dysregulation and brain calcification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYORG Knockout HEK293 Cell Line | EDJ-KQ12204 | Human | 57462 | Details Get a Quote |
| MYORG Knockout A-549 Cell Line | EDJ-KQ40936 | Human | 57462 | Details Get a Quote |
| MYORG Knockout HCT 116 Cell Line | EDJ-KQ40937 | Human | 57462 | Details Get a Quote |
| MYORG Knockout HeLa Cell Line | EDJ-KQ40938 | Human | 57462 | Details Get a Quote |
