Statements (110)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:advances |
contributed to understanding of muscular dystrophies
|
| gptkbp:alias |
gptkb:sarcoglycan_gamma
|
| gptkbp:alleles |
multiple variants
|
| gptkbp:anatomy |
skeletal muscle
|
| gptkbp:application |
study of muscular dystrophies
|
| gptkbp:associated_with |
gptkb:muscular_dystrophy
fatigue exercise intolerance genetic counseling muscle atrophy diagnostic imaging immunohistochemistry muscle hypertrophy muscle cramps myalgia biopsy findings dystrophin-associated glycoprotein complex family history of muscular dystrophy increased creatine kinase levels limb-girdle muscular dystrophy 2 C |
| gptkbp:biomarker_potential |
under investigation for disease progression
|
| gptkbp:breeding_range |
13q12.3
|
| gptkbp:character_traits |
muscle weakness
respiratory issues joint contractures cardiac involvement progressive muscle wasting |
| gptkbp:clinical_phenotype |
variable expressivity
|
| gptkbp:clinical_trial |
ongoing
pathogenic mutations ongoing for treatment options focused on treatment efficacy important for muscle function ongoing in Phase I/ II |
| gptkbp:clinical_use |
requires multidisciplinary approach
|
| gptkbp:code |
gptkb:sarcoglycan_gamma
|
| gptkbp:collaborations |
international studies ongoing
|
| gptkbp:diagnosis |
available for detection of mutations
|
| gptkbp:discovery_year |
gptkb:1995
|
| gptkbp:disease_mechanism |
disruption of muscle membrane integrity
|
| gptkbp:diseases |
gptkb:Cardiology
gptkb:muscular_dystrophy limb-girdle muscular dystrophy type 2 C linked to LGMD2 C |
| gptkbp:ecological_role |
structural component of muscle
|
| gptkbp:financial_support |
available for affected individuals
|
| gptkbp:function |
encodes a protein
muscle cell membrane stability |
| gptkbp:funding |
supported by various organizations
|
| gptkbp:genetic_map |
mapped to human genome
|
| gptkbp:genetic_mapping |
completed in several studies
|
| gptkbp:genetic_screening |
recommended for at-risk populations
|
| gptkbp:genetic_studies |
available
loss of function deletion insertion point mutation recommended for affected families available for mutations nonsense mutations varies among populations gain of function disruption of protein function causes muscular dystrophy |
| gptkbp:genetic_variants |
identified in clinical studies
|
| https://www.w3.org/2000/01/rdf-schema#label |
SGCG gene
|
| gptkbp:is_expressed_in |
skeletal muscle
high in muscle tissue |
| gptkbp:located_in |
human chromosome 13
|
| gptkbp:location |
chromosome 13
|
| gptkbp:mutation_analysis |
performed in affected families
|
| gptkbp:nutritional_value |
cell membrane stabilization
contains transmembrane domains interacts with other sarcoglycans involved in complex formation with other proteins localized to the sarcolemma sarcoglycan family |
| gptkbp:orthologs |
SGCG in other species
|
| gptkbp:pathogenic_variants |
identified in patients
|
| gptkbp:pathway |
muscle contraction
muscle development |
| gptkbp:promoter |
muscle structure
SGCG part of the dystrophin-associated glycoprotein complex |
| gptkbp:protein_length |
approximately 400 amino acids
|
| gptkbp:publication |
numerous studies published
|
| gptkbp:regulatory_compliance |
regulated by transcription factors
|
| gptkbp:related_to |
gptkb:sarcoglycan_complex
|
| gptkbp:research |
gene therapy studies
|
| gptkbp:research_areas |
gptkb:Genetics
aims to restore normal function focused on restoring function |
| gptkbp:research_focus |
therapeutic strategies
disease mechanisms protein interactions gene therapy approaches mutation analysis gene therapy for LGMD |
| gptkbp:seed_dispersal |
protein-coding gene
|
| gptkbp:therapeutic_strategies |
include gene replacement therapy
|
| gptkbp:therapeutic_targets |
potential for gene editing
|
| gptkbp:transcription_start_site |
located upstream of coding region
|
| gptkbp:treatment |
gptkb:gene_therapy
physical therapy supportive care improved with early intervention |
| gptkbp:weight |
about 45 k Da
|
| gptkbp:bfsParent |
gptkb:sarcoglycan_complex
|
| gptkbp:bfsLayer |
7
|