MYF6 - myogenic factor 6 Gene

Homo sapiens

Also known as CNM3; MRF4; myf-6; bHLHc4

Gene ID: 4618 | Gene type: protein coding

About MYF6

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:80,707,634-80,709,474 (from NCBI)

This gene has 1 transcript (splice variant), 200 orthologues, 3 paralogues and is associated with 1 phenotype. Biased expression in prostate (RPKM 5.4) and esophagus (RPKM 2.8).

Summary

The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]

MYF6 Products(1)

mRNA	Protein	Name
NM_002469.3	NP_002460.1	myogenic factor 6

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	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

MYF6 Protein Structure

Basic

HLH

0
100
200
242 a.a.

Protein Preferred Names

Protein Names

myogenic factor 6

class C basic helix-loop-helix protein 4

Related Diseases

Diseases

Alias

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy	CNM1
Centronuclear Myopathy 1	Ad-Cnm
Myopathy, Centronuclear, Autosomal Dominant	Myotubular Myopathy, Autosomal Dominant
Centronuclear Myopathy, Autosomal, Modifier Of	Autosomal Dominant Myotubular Myopathy
Dnm2-Related Centronuclear Myopathy	Centronuclear Myopathy Autosomal Dominant
Myopathies, Structural, Congenital	Myopathy, Centronuclear, Type 1

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive	Autosomal Recessive Centronuclear Myopathy
CNM2	Centronuclear Myopathy 2
Ar-Cnm	Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy	Centronuclear Myopathy Autosomal Recessive
Myopathy, Centronuclear, Type 2

Rhabdomyosarcoma

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Myopathy, Centronuclear, 4

CNM4	Centronuclear Myopathy 4
Congenital Myopathy With Internal Nuclei And Atypical Cores	Centronuclear Myopathy Type 4
Myopathy, Centronuclear, Type 4

Myopathy, Centronuclear, 6, With Fiber-Type Disproportion

CNM6	Centronuclear Myopathy 6 With Fiber-Type Disproportion
Myopathy, Centronuclear, Type 6, With Fiber-Type Disproportion

Oral Rhabdomyosarcoma

Pleomorphic Rhabdomyosarcoma

Adult Pleomorphic Rhabdomyosarcoma	Anaplastic Rhabdomyosarcoma
Pleomorphic Rhabdomyosarcoma, Adult Type

Myopathy, Centronuclear, 5

CNM5	Centronuclear Myopathy 5
Myopathy, Centronuclear, Type 5

Myopathy

Muscular Diseases

Myopathies

Inflammatory Leiomyosarcoma

Skeletal Muscle Neoplasm

Tumor Of Skeletal Muscle

Conventional Leiomyosarcoma

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy	Fshd
Landouzy-Dejerine Muscular Dystrophy	Muscular Dystrophy, Facioscapulohumeral
FSHD1	Fshd1a
Muscular Dystrophy, Facioscapulohumeral, Type 1a	Facioscapulohumeral Muscular Dystrophy Type 1a
Fsh Muscular Dystrophy	Facioscapulohumeral Muscular Dystrophy 1a
Facioscapulohumeral Atrophy	Facioscapulohumeral Myopathy
Muscular Dystrophy, Facioscapulohumeral, Type 1	Facioscapulohumeral Muscular Dystrophy Type 1
Landouzy Dejerine Muscular Dystrophy	Muscular Dystrophy, Landouzy-Dejerine
Fshmd1a	Facio-Scapulo-Humeral Dystrophy
Facioscapulohumeral Type Progressive Muscular Dystrophy	Facioscapuloperoneal Muscular Dystrophy
Facioscapulohumeral Dystrophy	Fsh Dystrophy
Landouzy-Dejerine Dystrophy	Landouzy-Dejerine Myopathy
Fmd	Facioscapulohumeral Muscular Dystrophy-1a
Muscular Dystrophy Facioscapulohumeral	Dystrophy, Muscular, Facioscapulohumeral
Dystrophy, Muscular, Facioscapulohumeral, Type 1	Landouzy-Dejerine Disease
Landouzy-Déjerine Atrophy	Facioscapulohumeral Muscle Dystrophy
Fmd - [Facioscapulohumeral Muscular Dystrophy]	Fsh - [Facioscapulohumeral Muscular Dystrophy]
Fshd - [Facioscapulohumeral Muscular Dystrophy]	Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
Landouzy-Déjérine Muscular Dystrophy

Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm

Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis	Fhl
Familial Erythrophagocytic Lymphohistiocytosis	Hemophagocytic Syndrome
FHL1	Hplh1
Hlh1	Fel
Familial Hemophagocytic Lymphohistiocytosis 1	Primary Hemophagocytic Lymphohistiocytosis
Familial Hlh	Hlh
Familial Hemophagocytic Lymphocytosis	Hemophagocytic Lymphohistiocytosis, Familial
Reticulosis, Familial Histiocytic	Hemophagocytic Reticulosis, Familial
Erythrophagocytic Lymphohistiocytosis, Familial	Familial Histiocytic Reticulosis
Familial Hemophagocytic Histiocytosis	Familial Hemophagocytic Reticulosis
Fhlh	Hplh
Primary Hemophagocytic Hymphohistiocytosis	Genetic Hemophagocytic Lymphohistiocytosis
Hemophagocytic Lymphohistiocytosis	Familial Hemophagocytic Lymphohistiocytosis Type 1

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma	Rhabdomyosarcoma, Alveolar
Rhabdomyosarcoma Alveolar	RMS2
Rmsa	Rhabdomyosarcoma 2, Alveolar
Alveolar Childhood Rhabdomyosarcoma	Arms
Rhabdomyosarcoma, Type 2

Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal	Rhabdomyosarcoma Embryonal
Botryoid Rhabdomyosarcoma	Erms
Spindle Cell Rhabdomyosarcomas

Muscle Cancer

Myosarcoma	Malignant Neoplasm Of Muscle
Malignant Tumor Of Muscle	Malignant Tumor Of The Muscle
Muscle Neoplasms	Myomatous Neoplasm

Muscular Disease

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08893	MYF6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MYF6	MGD	MGI:97253
Felis catus	MYF6	VGNC	VGNC:68378
Rattus norvegicus	MYF6	RGD	RGD:3134
Bos taurus	MYF6	VGNC	VGNC:31793
Canis familiaris	MYF6	VGNC	VGNC:43534
Macaca mulatta	MYF6	VGNC	VGNC:75096

Name
Email *

	Sorry, but the email address you supplied was invalid.