MYORG

MYORG
Identifiers
AliasesMYORG, NET37, KIAA1161, myogenesis regulating glycosidase (putative), IBGC7
External IDsOMIM: 618255; MGI: 2140300; GeneCards: MYORG
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
3.2.1.22↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

57462

329828

Ensembl

ENSG00000164976

ENSMUSG00000046312

UniProt

Q6NSJ0

Q69ZQ1

RefSeq (mRNA)

NM_020702

NM_001085515

RefSeq (protein)

NP_065753

NP_001078984

Location (UCSC)Chr 9: 34.37 – 34.38 MbChr 4: 41.5 – 41.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000164976 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  7. ^ a b 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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