MYORG

MYORG
Identifiers
Aliases	MYORG, NET37, KIAA1161, myogenesis regulating glycosidase (putative), IBGC7
External IDs	OMIM: 618255; MGI: 2140300; HomoloGene: 19853; GeneCards: MYORG; OMA:MYORG - orthologs
Enzyme activity
Gene location (Human)
Chr.	Chromosome 9 (human)
End	34,376,898 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	41,503,076 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; gastrocnemius muscle; ; muscle of thigh; ; vastus lateralis muscle; ; mucosa of ileum; ; jejunal mucosa; ; Skeletal muscle tissue of rectus abdominis; ; right lobe of liver; ; biceps brachii; ; putamen;
	Top expressed in
	muscle of thigh; ; plantaris muscle; ; extensor digitorum longus muscle; ; triceps brachii muscle; ; quadriceps femoris muscle; ; skeletal muscle tissue; ; sternocleidomastoid muscle; ; triceps surae; ; gastrocnemius muscle; ; digastric muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	hydrolase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; hydrolase activity, acting on glycosyl bonds;
Cellular component	integral component of membrane; membrane; nuclear membrane; endoplasmic reticulum membrane; nucleus; endoplasmic reticulum;
Biological process	metabolism; carbohydrate metabolic process; positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of protein kinase B signaling; glycoside catabolic process; skeletal muscle fiber development;
	Sources:Amigo / QuickGO
Orthologs
	57462
	329828
	ENSG00000164976
	ENSMUSG00000046312
	Q6NSJ0
	Q69ZQ1
	NM_020702
	NM_001085515
	NP_065753
	NP_001078984
	Wikidata
View/Edit Human	View/Edit Mouse

Myogenesis-regulating glycosidase is an enzyme that in humans is encoded by the MYORG gene.^[5]^[6]^[7] Mutations in this gene are associated with primary familial brain calcification (PFBC).^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000164976 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046312 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Meek RW, Brockerman J, Fordwour OB, Zandberg WF, Davies GJ, Vocadlo DJ (2022). "The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity". PLoS Biology. 20 (9) e3001764. doi:10.1371/journal.pbio.3001764. PMC 9491548. PMID 36129849.
↑ Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, et al. (January 2019). "MYORG is associated with recessive primary familial brain calcification". Annals of Clinical and Translational Neurology. 6 (1): 106–113. doi:10.1002/acn3.684. PMC 6331209. PMID 30656188.
1 2 Bauer M, Rahat D, Zisman E, Tabach Y, Lossos A, Meiner V, et al. (August 2019). "MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification". review. Current Neurology and Neuroscience Reports. 19 (10): 70. doi:10.1007/s11910-019-0986-z. PMID 31440850.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000164976 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046312 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Meek_2022-5] Meek RW, Brockerman J, Fordwour OB, Zandberg WF, Davies GJ, Vocadlo DJ (2022). "The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity". PLoS Biology. 20 (9) e3001764. doi:10.1371/journal.pbio.3001764. PMC 9491548. PMID 36129849.

[Arkadir_2019-6] Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, et al. (January 2019). "MYORG is associated with recessive primary familial brain calcification". Annals of Clinical and Translational Neurology. 6 (1): 106–113. doi:10.1002/acn3.684. PMC 6331209. PMID 30656188.

[Bauer_2019-7] 1 2 Bauer M, Rahat D, Zisman E, Tabach Y, Lossos A, Meiner V, et al. (August 2019). "MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification". review. Current Neurology and Neuroscience Reports. 19 (10): 70. doi:10.1007/s11910-019-0986-z. PMID 31440850.

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References