MYRF - myelin regulatory factor Gene

Also Known as MRF; CUGS; MMERV; Ndt80; 11orf9; pqn-47; C11orf9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 745

About MYRF

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,752,636-61,788,518 (from NCBI)

This gene has 11 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in stomach (RPKM 32.1), brain (RPKM 26.8) and 11 other tissues.

Summary

This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

MYRF Products (2)

mRNA	Protein	Name
NM_001127392.3	NP_001120864.1	myelin regulatory factor isoform 2 precursor
NM_013279.4	NP_037411.1	myelin regulatory factor isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	23966832	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYRF Protein Structure

NDT80_PhoG

Peptidase_S74

MRF_C1

MRF_C2

0
200
400
600
800
1000
1151 a.a.

Protein Preferred Names	Protein Names
myelin regulatory factor	myelin gene regulatory factor

Related Diseases

Diseases	Alias
Cardiac-Urogenital Syndrome	CUGS
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization	MMERV Encephalitis/Encephalopathy, Mild, With Reversible Splenial Lesion Mers
Nanophthalmos 1	NNO1 Nanophthalmia 1 Nanophthalmos, Autosomal Dominant Nanophthalmos With High Hyperopia And Angle-Closure Glaucoma Microphthalmos, Simple, Autosomal Dominant Nanophthalmos-1
Dextrocardia	Heart Predominantly In Right Hemithorax Heart In Right Chest Right-Sided Heart Congenital Dextrocardia Of Heart Transposition Of Heart
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Total Anomalous Pulmonary Venous Return 1	Scimitar Syndrome Total Anomalous Pulmonary Venous Return Anomalous Pulmonary Venous Return Scimitar Anomaly TAPVR1 Apvr Halasz Syndrome Hypogenetic Lung Syndrome Pulmonary Venolobar Syndrome TAPVR Congenital Total Pulmonary Venous Return Anomaly Congenital Venolobar Syndrome Mirror-Image Lung Syndrome Vena Cava Bronchovascular Syndrome Pulmonary Venous Return Anomaly Congenital Pulmonary Venolobar Syndrome Epibronchial Right Pulmonary Vein Syndrome
Aqueous Misdirection
Interval Angle-Closure Glaucoma	Intermittent Angle-Closure Glaucoma Angle-Closure Glaucoma, Subacute Prodromal Angle Closure Glaucoma
Microphthalmia, Isolated 6	Isolated Microphthalmia 6 MCOP6 Microphthalmia, Posterior Nonsyndromic Posterior Nonsyndromic Microphthalmia Microphthalmia, Isolated, 6 Autosomal Recessive Posterior Microphthalmos Posterior Non-Syndromic Microphthalmia Microphthalmia, Isolated, Type 6
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Nanophthalmos	Nanophthalmia
Diaphragmatic Eventration
Kenny-Caffey Syndrome	Kenny Syndrome
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Pcwh Syndrome PCWH Neurologic Waardenburg-Shah Syndrome Waardenburg-Shah Syndrome, Neurologic Variant Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease Ws4 Plus Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease Waardenburg-Shah Syndrome Neurologic Variant
Pelizaeus-Merzbacher Disease	PMD HLD1 Pelizaeus-Merzbacher Brain Sclerosis Leukodystrophy, Hypomyelinating, 1 Diffuse Familial Brain Sclerosis Pelizaeus Merzbacher Brain Sclerosis Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type Cockayne-Pelizaeus-Merzbacher Disease Hypomyelinating Leukodystrophy 1 Leukodystrophy, Sudanophilic Pelizaeus Merzbacher Disease Hypomyelinating Leukodystrophy, 1 Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease, Connatal Form Connatal Pmd Pelizaeus-Merzbacher Disease Type Ii Severe Pmd Null Syndrome Plp1 Null Syndrome Pelizaeus-Merzbacher Disease, Null Syndrome Brain Sclerosis Diffuse Familial Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type Leukodystrophy Hypomyelinating 1 Diffuse Cerebral Sclerosis Of Schilder
Donnai-Barrow Syndrome	Faciooculoacousticorenal Syndrome Dbs/Foar Syndrome Foar Syndrome Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome Facio-Oculo-Acoustico-Renal Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome Holmes-Schepens Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness DBS Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss Donnai Barrow Syndrome
Microphthalmia, Syndromic 9	Matthew-Wood Syndrome Spear Syndrome Anophthalmia/Microphthalmia And Pulmonary Hypoplasia Microphthalmia, Isolated, With Coloboma 8 MCOPS9 Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Pdac Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect Pmd Syndromic Microphthalmia 9 Anophthalmia-Pulmonary Hypoplasia Syndrome Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect Microphthalmia Syndromic 9 Matthew Wood Syndrome Pdac Syndrome Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome Microphthalmia, Isolated, With Coloboma, 8 MCOPCB8 Isolated Colobomatous Microphthalmia 8 Microphthalmia, Syndromic, 9 Anophthalmia With Pulmonary Hypoplasia Microphthalmia Syndromic, Type 9 Anophthalmia And Pulmonary Hypoplasia
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Retinal Degeneration	Degeneration Of Retina
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08969	MYRF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18955	Myrf Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25445	Myrf Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MYRF	VGNC	VGNC:74949
Rattus norvegicus	MYRF	RGD	RGD:1306622
Felis catus	MYRF	VGNC	VGNC:63696
Mus musculus	MYRF	MGD	MGI:2684944
Bos taurus	MYRF	VGNC	VGNC:31844
Canis familiaris	MYRF	VGNC	VGNC:43588
Others	MYRF	NCBI