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autosomal recessive limb-girdle muscular dystrophy type 2Y
Summary
- Synonym
-
- LGMD2Y
- autosomal recessive muscular dystrophy due to LAP1B deficiency
- autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
- muscular dystrophy with progressive weakness, distal contractures and rigid spine
- muscular dystrophy, limb-girdle, type 2Y
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110289
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 54344 | DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 55750 | AGK | acylglycerol kinase | |
| 56983 | POGLUT1 | protein O-glucosyltransferase 1 | |
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2X0 | Dolichol-phosphate mannosyltransferase subunit 3 | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
