1. Gene
  2. MYMK - myomaker, myoblast fusion factor Gene

MYMK - myomaker, myoblast fusion factor Gene

Homo sapiens

Also known as TMEM8C; TMEM226; MYOMAKER

Gene ID: 389827 | Gene type: protein coding

About MYMK

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,514,586-133,524,959 (from NCBI)

This gene has 2 transcripts (splice variants), 191 orthologues, 2 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2022]

MYMK Products(1)

mRNA Protein Name
NM_001080483.3 NP_001073952.1 protein myomaker

MYMK Protein Structure

DUF3522

DUF3522: Protein of unknown function (DUF3522) (3 - 185)

  • 0
  • 100
  • 200
  • 221 a.a.
Protein Preferred Names Protein Names

protein myomaker

myoblast fusion maker

Related Diseases

Diseases Alias
Carey-Fineman-Ziter Syndrome 1

Carey-Fineman-Ziter Syndrome

CFZS

Congenital Nonprogressive Myopathy With Moebius And Robin Sequences

Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence

Cfz Syndrome

Carey Fineman Ziter Syndrome

Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences

Myopathy-Moebius-Robin Syndrome

CFZS1

Moebius Sequence, Robin Complex, And Hypotonia

Congenital Non-Progressive Myopathy With Moebius And Robin Sequences

Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset

EMARDD

Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant

Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome

Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia

Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia

Fibrosis Of Extraocular Muscles, Congenital, 3a, With Or Without Extraocular Involvement

CFEOM3A

Fibrosis Of Extraocular Muscles, Congenital, 3a

Congenital Fibrosis Of The Extraocular Muscles 3a

Feom3 Locus

Congenital Fibrosis Of Extraocular Muscles 3a With Or Without Extraocular Involvement

Feom3

Tubb3 Syndrome

Fibrosis Of Extraocular Muscles, Congenital, Type 3a

Facial Hemiatrophy

Parry-Romberg Syndrome

Nemaline Myopathy 4

Cap Myopathy 2

NEM4

Nemaline Myopathy 4, Autosomal Dominant

Nemaline Myopathy, Type 4

CAPM2

Cap Disease

Cap Myopathy Tpm2-Related

Tpm2-Related Nemaline Myopathy

Tpm2-Related Cap Myopathy

Myopathy, Nemaline, Type 4

Cap Myopathy

Cardiomyopathy, Dilated, 1kk

Cardiomyopathy, Familial Restrictive, 4

Dilated Cardiomyopathy 1kk

CMD1KK

Cardiomyopathy, Hypertrophic, 22

Cardiomyopathy, Dilated 1kk

Cardiomyopathy, Familial Hypertrophic 22

CMH22

Cardiomyopathy, Familial Restrictive 4

RCM4

Familial Hypertrophic Cardiomyopathy 22

Cardiomyopathy, Dilated, Type 1kk

Cardiomyopathy, Familial Hypertrophic, 22

Nemaline Myopathy 11, Autosomal Recessive

NEM11

Nemaline Myopathy 11

Cardiomyopathy, Familial Hypertrophic, 9

Hypertrophic Cardiomyopathy 9

CMH9

Cardiomyopathy, Familial Hypertrophic 9

Cardiomyopathy, Hypertrophic, Familial, Type 9

Hyperlucent Lung

Lung, Hyperlucent

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

EDMD3

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive

Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive

Emery-Dreifuss Muscular Dystrophy 3

Poland Syndrome

Poland Anomaly

Poland Sequence

Poland Syndactyly

Poland'S Syndrome

Poland'S Anomaly

Poland'S Syndactyly

Acro-Pectoro-Renal Field Defect

Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys

Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand

Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand

Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Rippling Muscle Disease 2

Rippling Muscle Disease

Rmd

Lgmd1c

RMD2

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly

Lgmd1c, Formerly

Limb-Girdle Muscular Dystrophy Type 1c

Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency

Muscular Dystrophy, Limb-Girdle, Type Ic

Rippling Muscle Syndrome

Limb-Girdle Muscular Dystrophy 1c

Dystrophy, Muscular, Limb-Girdle, Type 1c

Disease, Muscle, Rippling, Type 2

Rippling Muscle Disease 1

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emd2

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy With Cardiopathy

Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

Hauptmann-Thannhauser Muscular Dystrophy

Cardiomyopathy, Dilated, With Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Lgmd1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Limb-Girdle Muscular Dystrophy 1b

Muscular Dystrophy, Proximal, Type 1b

Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MYMK RGD RGD:1306074
Bos taurus MYMK VGNC VGNC:31810
Macaca mulatta MYMK VGNC VGNC:103278
Mus musculus MYMK MGD MGI:1913389
Canis familiaris MYMK VGNC VGNC:43553