Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive limb-girdle muscular dystrophy type 2C
Summary
- Synonym
-
- DMDA1
- LGMD2C
- Maghrebian myopathy
- SCARMD
- autosomal recessive Duchenne-like muscular dystrophy type 1
- deficiency of sarcoglycan gamma
- gamma-sarcoglycanopathy
- limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
- muscular dystrophy, limb-girdle, type 2C
- severe childhood autosomal recessive muscular dystrophy North African type
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110277
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 26033 | ATRNL1 | attractin like 1 | |
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12821 | Angiotensin-converting enzyme | |
| P13727 | Bone marrow proteoglycan | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P16070 | CD44 antigen | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P17931 | Galectin-3 | |
| P18054 | Polyunsaturated fatty acid lipoxygenase ALOX12 | |
| P22303 | Acetylcholinesterase |
