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Aliases for MYO6 Gene

Aliases for MYO6 Gene

  • Myosin VI 2 3 5
  • Unconventional Myosin-6 3 4
  • Deafness, Autosomal Recessive 37 2
  • Myosin VI Transcript Variant 007 3
  • Myosin VI Transcript Variant 008 3
  • Unconventional Myosin-VI 3
  • Myo6-007 3
  • Myo6-008 3
  • KIAA0389 4
  • DFNA22 3
  • DFNB37 3

External Ids for MYO6 Gene

Previous HGNC Symbols for MYO6 Gene

  • DFNA22
  • DFNB37

Previous GeneCards Identifiers for MYO6 Gene

  • GC06P076406
  • GC06P076454
  • GC06P076515
  • GC06P073657

Summaries for MYO6 Gene

Entrez Gene Summary for MYO6 Gene

  • This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

GeneCards Summary for MYO6 Gene

MYO6 (Myosin VI) is a Protein Coding gene. Diseases associated with MYO6 include Deafness, Autosomal Dominant 22 and Deafness, Autosomal Recessive 37. Among its related pathways are PAK Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is MYO15A.

UniProtKB/Swiss-Prot for MYO6 Gene

  • Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells (By similarity).

Gene Wiki entry for MYO6 Gene

Additional gene information for MYO6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO6 Gene

Genomics for MYO6 Gene

GeneHancer (GH) Regulatory Elements for MYO6 Gene

Promoters and enhancers for MYO6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I075747 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 555.2 +2.2 2231 7 PKNOX1 ATF1 FOXA2 ARID4B SIN3A ZNF2 ZBTB7B ZNF48 GTF3C2 GLIS2 MYO6 SENP6 RNU6-155P
GH06I075748 Enhancer 0.7 ENCODE 550.8 -1.4 -1397 0.2 BMI1 GTF3C2 FOSL1 CTBP1 ARID3A GATA3 FOS RCOR1 TCF7L2 ZNF687 MYO6 GC06P075725
GH06I075749 Enhancer 0.7 ENCODE 550.8 -1.6 -1617 0.2 NEUROD1 ZNF384 BMI1 FOSL1 MTA3 CTBP1 ARID3A GATA3 RCOR1 TCF7L2 MYO6 GC06P075725
GH06I075782 Promoter 0.6 EPDnew 550.3 +33.7 33703 0.1 ZNF121 MYO6 RNU6-155P RNA5SP209
GH06I075830 Enhancer 0.7 ENCODE 9.7 +82.0 81974 0.8 BMI1 BATF IRF4 ZFHX2 EGR1 NFATC1 ATF7 ZSCAN29 ETV6 FOS MYO6 RNA5SP209 RNU6-155P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYO6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYO6 gene promoter:

Genomic Locations for MYO6 Gene

Genomic Locations for MYO6 Gene
chr6:75,749,176-75,919,537
(GRCh38/hg38)
Size:
170,362 bases
Orientation:
Plus strand
chr6:76,458,909-76,629,254
(GRCh37/hg19)

Genomic View for MYO6 Gene

Genes around MYO6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO6 Gene

Proteins for MYO6 Gene

  • Protein details for MYO6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM54-MYO6_HUMAN
    Recommended name:
    Unconventional myosin-VI
    Protein Accession:
    Q9UM54
    Secondary Accessions:
    • A6H8V4
    • E1P540
    • Q5TEM5
    • Q5TEM6
    • Q5TEM7
    • Q9BZZ7
    • Q9UEG2

    Protein attributes for MYO6 Gene

    Size:
    1294 amino acids
    Molecular mass:
    149691 Da
    Quaternary structure:
    • Homodimer; dimerization seems to implicate the unfolding of the three-helix bundle region creating an additional calmodulin binding site, and cargo binding (By similarity). Binding to calmodulin through a unique insert, not found in other myosins, located in the neck region between the motor domain and the IQ domain appears to contribute to the directionality reversal. This interaction occurs only if the C-terminal lobe of calmodulin is occupied by calcium. Interaction with F-actin/ACTN1 occurs only at the apical brush border domain of the proximal tubule cells (By similarity). Interacts with DAB2. In vitro, the C-terminal globular tail binds a C-terminal region of DAB2. Interacts with CFTR. Forms a complex with CFTR and DAB2 in the apical membrane of epithelial cells. Interacts with OPTN (By similarity).
    SequenceCaution:
    • Sequence=BAA20843.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYO6 Gene

    Alternative splice isoforms for MYO6 Gene

neXtProt entry for MYO6 Gene

Post-translational modifications for MYO6 Gene

  • Phosphorylation in the motor domain, induced by EGF, results in translocation of MYO6 from the cell surface to membrane ruffles and affects F-actin dynamics. Phosphorylated in vitro by p21-activated kinase (PAK) (By similarity).
  • Ubiquitination at isoforms=2, 3, 4, 5, 6425, Lys646, isoforms=2, 3, 4, 5, 6750, isoforms=2, 3, 4, 5, 6755, isoforms=2, 3, 4, 5, 61067, isoforms=2, 3, 61132, and Lys1183
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MYO6 Gene

Domains & Families for MYO6 Gene

Gene Families for MYO6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MYO6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UM54

UniProtKB/Swiss-Prot:

MYO6_HUMAN :
  • Divided into three regions: a N-terminal motor (head) domain, followed by a neck domain consisting of a calmodulin-binding linker domain and a single IQ motif, and a C-terminal tail region with a three-helix bundle region, a SAH domain and a unique globular domain required for interaction with other proteins such as cargo-binding.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • Divided into three regions: a N-terminal motor (head) domain, followed by a neck domain consisting of a calmodulin-binding linker domain and a single IQ motif, and a C-terminal tail region with a three-helix bundle region, a SAH domain and a unique globular domain required for interaction with other proteins such as cargo-binding.
  • The SAH (single alpha-helix) region is characterized by a high content of charged residues which are predicted to stabilize the alpha-helical structure by ionic bonds. Its contribution to the mechanism confering the myosin movement on actin filaments is debated.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO6: view

Function for MYO6 Gene

Molecular function for MYO6 Gene

GENATLAS Biochemistry:
myosin 6,unconventional,motor contractile protein moving in the reverse duection,toward the "minus" end of actin track,apparently non filamentous,mouse Myo6 ortholog responsible for deafness in Snell waltzer mice expressed in fetal cochlea (articular plate of hair cells) and brain
UniProtKB/Swiss-Prot Function:
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells (By similarity).

Phenotypes From GWAS Catalog for MYO6 Gene

Gene Ontology (GO) - Molecular Function for MYO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA,ISS --
GO:0003779 actin binding TAS 10519557
GO:0005515 protein binding IPI 11447109
GO:0005516 calmodulin binding TAS 12857860
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYO6: view
genes like me logo Genes that share phenotypes with MYO6: view

Human Phenotype Ontology for MYO6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MYO6 Gene

Localization for MYO6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO6 Gene

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Golgi apparatus. Nucleus. Cytoplasm, perinuclear region. Membrane, clathrin-coated pit. Cell projection, ruffle membrane; Peripheral membrane protein. Note=Also present in endocyctic vesicles, and membrane ruffles. Translocates from membrane ruffles, endocytic vesicles and cytoplasm to Golgi apparatus, perinuclear membrane and nucleus through induction by p53 and p53-induced DNA damage. Recruited into membrane ruffles from cell surface by EGF-stimulation. Colocalizes with DAB2 in clathrin-coated pits/vesicles. Colocalizes with OPTN at the Golgi complex and in vesicular structures close to the plasma membrane (By similarity). {ECO:0000250}.
Isoform 3: Cytoplasmic vesicle, clathrin-coated vesicle membrane.
Isoform 4: Cytoplasmic vesicle, clathrin-coated vesicle membrane. Cell projection, ruffle membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYO6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
golgi apparatus 5
lysosome 4
endosome 2

Gene Ontology (GO) - Cellular Components for MYO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 9852149
GO:0005634 nucleus IDA,IEA 16507995
GO:0005654 nucleoplasm IDA 16949370
GO:0005737 cytoplasm ISS --
GO:0005765 lysosomal membrane TAS --
genes like me logo Genes that share ontologies with MYO6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYO6 Gene

Pathways & Interactions for MYO6 Gene

genes like me logo Genes that share pathways with MYO6: view

Gene Ontology (GO) - Biological Process for MYO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport ISS --
GO:0006897 endocytosis ISS --
GO:0007605 sensory perception of sound IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with MYO6: view

No data available for SIGNOR curated interactions for MYO6 Gene

Drugs & Compounds for MYO6 Gene

(4) Drugs for MYO6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(2) Additional Compounds for MYO6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYO6: view

Transcripts for MYO6 Gene

Unigene Clusters for MYO6 Gene

Myosin VI:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYO6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b · 33c
SP1: - -
SP2: - -
SP3:

Relevant External Links for MYO6 Gene

GeneLoc Exon Structure for
MYO6
ECgene alternative splicing isoforms for
MYO6

Expression for MYO6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYO6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MYO6 Gene

This gene is overexpressed in Retina (14.4), Cervix (11.9), Breast (6.3), and Islet of Langerhans (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYO6 Gene



NURSA nuclear receptor signaling pathways regulating expression of MYO6 Gene:

MYO6

SOURCE GeneReport for Unigene cluster for MYO6 Gene:

Hs.149387

mRNA Expression by UniProt/SwissProt for MYO6 Gene:

Q9UM54-MYO6_HUMAN
Tissue specificity: Expressed in most tissues examined including heart, brain, placenta, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon. Highest levels in brain, pancreas, testis and small intestine. Also expressed in fetal brain and cochlea. Isoform 1 and isoform 2, containing the small insert, and isoform 4, containing neither insert, are expressed in unpolarized epithelial cells.

Evidence on tissue expression from TISSUES for MYO6 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Eye(3.2)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MYO6: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MYO6 Gene

Orthologs for MYO6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYO6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYO6 33 34
  • 99.79 (n)
oppossum
(Monodelphis domestica)
Mammalia MYO6 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYO6 33 34
  • 94.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYO6 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYO6 33 34
  • 91.88 (n)
mouse
(Mus musculus)
Mammalia Myo6 33 16 34
  • 88.48 (n)
rat
(Rattus norvegicus)
Mammalia Myo6 33
  • 87.5 (n)
chicken
(Gallus gallus)
Aves MYO6 33 34
  • 81.77 (n)
lizard
(Anolis carolinensis)
Reptilia MYO6 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo6 33
  • 78.1 (n)
zebrafish
(Danio rerio)
Actinopterygii myo6a 34
  • 81 (a)
OneToMany
myo6b 33 34
  • 73.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta jar 35 33 34
  • 54.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000776 33
  • 51.52 (n)
worm
(Caenorhabditis elegans)
Secernentea hum-8 35 33 34
  • 53.94 (n)
spe-15 35 34
  • 50 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6031 33
rice
(Oryza sativa)
Liliopsida Os.22677 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1865 34
  • 59 (a)
OneToOne
Species where no ortholog for MYO6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYO6 Gene

ENSEMBL:
Gene Tree for MYO6 (if available)
TreeFam:
Gene Tree for MYO6 (if available)

Paralogs for MYO6 Gene

(16) SIMAP similar genes for MYO6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MYO6: view

Variants for MYO6 Gene

Sequence variations from dbSNP and Humsavar for MYO6 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1035488371 uncertain-significance, Nonsyndromic Hearing Loss, Recessive, Nonsyndromic Hearing Loss, Dominant 75,916,859(+) A/G 3_prime_UTR_variant
rs1045758 likely-benign, Nonsyndromic Hearing Loss, Recessive, Nonsyndromic Hearing Loss, Dominant 75,915,471(+) A/G 3_prime_UTR_variant
rs10547766 likely-benign, Nonsyndromic Hearing Loss, Recessive, Nonsyndromic Hearing Loss, Dominant 75,919,435(+) AATTAATT/AATT 3_prime_UTR_variant
rs1060499650 uncertain-significance, Deafness, autosomal dominant 22 75,835,951(+) T/A coding_sequence_variant, missense_variant
rs1060499799 pathogenic, Deafness, autosomal dominant 22 75,844,977(+) G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MYO6 Gene

Variant ID Type Subtype PubMed ID
esv2618363 CNV deletion 19546169
esv3576179 CNV gain 25503493
esv3609581 CNV loss 21293372
esv7870 CNV gain 19470904
nsv1032961 CNV gain 25217958

Variation tolerance for MYO6 Gene

Residual Variation Intolerance Score: 4.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.28; 62.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO6 Gene

Human Gene Mutation Database (HGMD)
MYO6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO6 Gene

Disorders for MYO6 Gene

MalaCards: The human disease database

(17) MalaCards diseases for MYO6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 22
  • dfna22
deafness, autosomal recessive 37
  • dfnb37
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
nonsyndromic deafness
  • nonsyndromic hearing loss
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards
Search MYO6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYO6_HUMAN
  • Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]: An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. {ECO:0000269 PubMed:15060111}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 22 (DFNA22) [MIM:606346]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness. {ECO:0000269 PubMed:11468689}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 37 (DFNB37) [MIM:607821]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:12687499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYO6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYO6: view

No data available for Genatlas for MYO6 Gene

Publications for MYO6 Gene

  1. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. (PMID: 11468689) Melchionda S … Gasparini P (American journal of human genetics 2001) 2 3 4 22 58
  2. Myosin VI is a mediator of the p53-dependent cell survival pathway. (PMID: 16507995) Jung EJ … Chen X (Molecular and cellular biology 2006) 3 4 22 58
  3. Nuclear myosin VI enhances RNA polymerase II-dependent transcription. (PMID: 16949370) Vreugde S … Biffo S (Molecular cell 2006) 3 4 22 58
  4. A monomeric myosin VI with a large working stroke. (PMID: 15044955) Lister I … Kendrick-Jones J (The EMBO journal 2004) 3 4 22 58
  5. Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). (PMID: 15060111) Mohiddin SA … Morell RJ (Journal of medical genetics 2004) 3 4 44 58

Products for MYO6 Gene

Sources for MYO6 Gene

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