SMGMQTL
MCID: SKL034
MIFTS: 13

Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus (SMGMQTL)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

MalaCards integrated aliases for Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus:

Name: Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus 57 6
Skeletal Muscle Glycogen Content and Metabolism Qtl 57
Smgmqtl 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM® 57 619030

Summaries for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

OMIM® : 57 AMPK is a heterotrimeric protein that functions to maintain cellular and whole body energy homeostasis. Variation in the PRKAG3 subunit of AMPK has been linked to an increase in muscle glycogen content in pigs (Milan et al., 2000), mice (Garcia-Roves et al. (2008)), and humans (Costford et al., 2007). (619030) (Updated 05-Apr-2021)

MalaCards based summary : Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus, is also known as skeletal muscle glycogen content and metabolism qtl. An important gene associated with Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus is PRKAG3 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 3). Affiliated tissues include skeletal muscle.

Related Diseases for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

Symptoms & Phenotypes for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
increased skeletal muscle glycogen content (in r225w homozygous carriers)
decreased intramuscular triglyceride (imtg, in r225w homozygous carriers)

Metabolic Features:
doubled basal and amp-activated ampk activities (in r225w homozygous carriers)

Clinical features from OMIM®:

619030 (Updated 05-Apr-2021)

Drugs & Therapeutics for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

Search Clinical Trials , NIH Clinical Center for Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus

Genetic Tests for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

Anatomical Context for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

MalaCards organs/tissues related to Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus:

40
Skeletal Muscle

Publications for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

Articles related to Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus:

# Title Authors PMID Year
1
Naturally occurring R225W mutation of the gene encoding AMP-activated protein kinase (AMPK)gamma(3) results in increased oxidative capacity and glucose uptake in human primary myotubes. 57 6
20473479 2010
2
Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle. 6 57
17878938 2007
3
A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle. 57 6
10818001 2000
4
Gain-of-function R225Q mutation in AMP-activated protein kinase gamma3 subunit increases mitochondrial biogenesis in glycolytic skeletal muscle. 57
18838377 2008

Variations for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

ClinVar genetic disease variations for Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKAG3 NM_017431.3(PRKAG3):c.673C>T (p.Arg225Trp) SNV association 5284 rs138130157 GRCh37: 2:219693284-219693284
GRCh38: 2:218828561-218828561

Expression for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

Search GEO for disease gene expression data for Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus.

Pathways for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

GO Terms for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

Sources for Skeletal Muscle Glycogen Content and Metabolism Quantitative...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....