Pomt2 - protein-O-mannosyltransferase 2 Gene
Species: Mus musculus
Summary
This gene encodes an integral membrane protein that belongs to the dolichyl-phosphate-mannose-protein mannosyltransferase family. The encoded enzyme is found in the membrane of the endoplasmic reticulum. This protein is a component of the protein O-mannosyltransferase enzyme complex which is involved in modification of the protein alpha-dystroglycan. Mutations in the human gene are a cause of different forms of muscular dystrophy-dystroglycanopathy (MDDG), type A2 (also known as Walker-Warburg syndrome), type B2 and type C2 (also known as limb-girdle muscular dystrophy). [provided by RefSeq, Sep 2015]
Pomt2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_153415.4 | NP_700464.2 | protein O-mannosyl-transferase 2 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within basement membrane organization |
IMP
IMP: Inferred from mutant phenotype
|
21970971 | MGI |
| acts upstream of or within dentate gyrus development |
IMP
IMP: Inferred from mutant phenotype
|
21970971 | MGI |
| acts upstream of or within reactive gliosis |
IMP
IMP: Inferred from mutant phenotype
|
21970971 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein O-mannosyl-transferase 2 |
|