MYRF (myelin regulatory factor)

2014-11-01  

Identity

HGNC
LOCATION
11q12.2
LOCUSID
ALIAS
11orf9,C11orf9,CUGS,MMERV,MRF,Ndt80,pqn-47

Other Information

Locus ID:

NCBI: 745
MIM: 608329
HGNC: 1181
Ensembl: ENSG00000124920

Variants:

dbSNP: 745
ClinVar: 745
TCGA: ENSG00000124920
COSMIC: MYRF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124920ENST00000265460Q9Y2G1
ENSG00000124920ENST00000278836Q9Y2G1
ENSG00000124920ENST00000389602B4DHB2

Expression (GTEx)

0
50
100
150
200
250

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
239668322013A Bacteriophage tailspike domain promotes self-cleavage of a human membrane-bound transcription factor, the myelin regulatory factor MYRF.21
286310932017Myelin regulatory factor drives remyelination in multiple sclerosis.21
281605982017Homo-trimerization is essential for the transcription factor function of Myrf for oligodendrocyte differentiation.16
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
305322272018De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.10
294465462018De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.8
292654532018MYRF is associated with encephalopathy with reversible myelin vacuolization.7
310489002019Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.6
312660622019Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.3

Citation

Dessen P

MYRF (myelin regulatory factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70639/myrf