MYORG (myogenesis regulating glycosidase (putative))

2017-09-01  

Identity

HGNC
LOCATION
9p13.3
LOCUSID
ALIAS
IBGC7,KIAA1161,NET37

Other Information

Locus ID:

NCBI: 57462
MIM: 618255
HGNC: 19918
Ensembl: ENSG00000164976

Variants:

dbSNP: 57462
ClinVar: 57462
TCGA: ENSG00000164976
COSMIC: MYORG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164976ENST00000297625Q6NSJ0
ENSG00000164976ENST00000379142X6RA92

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
299100002018Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.16
310090472019Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.4
305894672019Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.3
306561882019MYORG is associated with recessive primary familial brain calcification.3
306492222019A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.1
308953942019Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.1

Citation

Dessen P

MYORG (myogenesis regulating glycosidase (putative))

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/78831/myorg