This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-... See more...

Aliases for MYO5A Gene

Aliases for MYO5A Gene

  • Myosin VA 2 3 5
  • Myoxin 2 3 4
  • Dilute Myosin Heavy Chain, Non-Muscle 3 4
  • Myosin VA (Heavy Chain 12, Myoxin) 2 3
  • Myosin, Heavy Polypeptide Kinase 2 3
  • Unconventional Myosin-Va 3 4
  • Myosin Heavy Chain 12 2 4
  • Myosin-12 3 4
  • Myosin V 2 3
  • MYH12 3 4
  • MYR12 2 3
  • MYO5 2 3
  • GS1 2 3
  • Myosin VA (Heavy Polypeptide 12, Myoxin) 2
  • Myosin-Va 3
  • MYO5A 5

External Ids for MYO5A Gene

Previous HGNC Symbols for MYO5A Gene

  • MYH12

Previous GeneCards Identifiers for MYO5A Gene

  • GC15M048163
  • GC15M045652
  • GC15M050183
  • GC15M050321
  • GC15M050392
  • GC15M052599
  • GC15M029430
  • GC15M052419
  • GC15M052690
  • GC15M057681
  • GC15M057793
  • GC15M057913
  • GC15M059893
  • GC15M054274
  • GC15M054938
  • GC15M055379
  • GC15M055828
  • GC15M056263
  • GC15M056712
  • GC15M057152
  • GC15M057576
  • GC15M060775
  • GC15M061716

Summaries for MYO5A Gene

Entrez Gene Summary for MYO5A Gene

  • This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]

GeneCards Summary for MYO5A Gene

MYO5A (Myosin VA) is a Protein Coding gene. Diseases associated with MYO5A include Griscelli Syndrome, Type 1 and Griscelli Syndrome, Type 3. Among its related pathways are Sweet Taste Signaling and RhoGDI Pathway. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is MYO5B.

UniProtKB/Swiss-Prot Summary for MYO5A Gene

  • Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.

Gene Wiki entry for MYO5A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO5A Gene

Genomics for MYO5A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYO5A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO5A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO5A

Top Transcription factor binding sites by QIAGEN in the MYO5A gene promoter:
  • Cart-1
  • Evi-1

Genomic Locations for MYO5A Gene

Latest Assembly
chr15:52,307,283-52,529,050
(GRCh38/hg38)
Size:
221,768 bases
Orientation:
Minus strand

Previous Assembly
chr15:52,599,480-52,821,247
(GRCh37/hg19 by Entrez Gene)
Size:
221,768 bases
Orientation:
Minus strand

chr15:52,599,480-52,821,247
(GRCh37/hg19 by Ensembl)
Size:
221,768 bases
Orientation:
Minus strand

Genomic View for MYO5A Gene

Genes around MYO5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO5A Gene

Proteins for MYO5A Gene

  • Protein details for MYO5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4I1-MYO5A_HUMAN
    Recommended name:
    Unconventional myosin-Va
    Protein Accession:
    Q9Y4I1
    Secondary Accessions:
    • A8MZC5
    • O60653
    • Q07902
    • Q16249
    • Q9UE30
    • Q9UE31

    Protein attributes for MYO5A Gene

    Size:
    1855 amino acids
    Molecular mass:
    215405 Da
    Quaternary structure:
    • May be a homodimer, which associates with multiple calmodulin or myosin light chains (By similarity). Interacts with RIPL2, the interaction is required for its role in dendrite formation (By similarity). Interacts with MLPH (PubMed:12062444). Interacts with SYTL4 (By similarity). Interacts with MYRIP (By similarity). Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles (PubMed:22908308). Interacts with FMR1; this interaction occurs in association with polyribosome (By similarity).

    Three dimensional structures from OCA and Proteopedia for MYO5A Gene

    Alternative splice isoforms for MYO5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO5A Gene

Post-translational modifications for MYO5A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for MYO5A

No data available for DME Specific Peptides for MYO5A Gene

Domains & Families for MYO5A Gene

Gene Families for MYO5A Gene

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

Protein Domains for MYO5A Gene

Suggested Antigen Peptide Sequences for MYO5A Gene

GenScript: Design optimal peptide antigens:
  • Myoxin (MYO5A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4I1

UniProtKB/Swiss-Prot:

MYO5A_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO5A: view

Function for MYO5A Gene

Molecular function for MYO5A Gene

UniProtKB/Swiss-Prot Function:
Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.
GENATLAS Biochemistry:
myosin 5A,unconventional,apparently non filamentous,processive motor protein,expressed in non muscle tissues,moving vesicles on actin tracks through a characteristic cycle of interaction with actin,the rate limiting step of the cycle being the ADP release,also involved in melanogenesis

Phenotypes From GWAS Catalog for MYO5A Gene

Gene Ontology (GO) - Molecular Function for MYO5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity NAS 10448864
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22681889
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with MYO5A: view
genes like me logo Genes that share phenotypes with MYO5A: view

Human Phenotype Ontology for MYO5A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO5A Gene

MGI Knock Outs for MYO5A:
  • Myo5a Myo5a<tm1a(KOMP)Wtsi>
  • Myo5a Myo5a<tm1e(KOMP)Wtsi>

miRNA for MYO5A Gene

miRTarBase miRNAs that target MYO5A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO5A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYO5A Gene

Localization for MYO5A Gene

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 MYO5A gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 4
plasma membrane 2
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYO5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 9852149
GO:0005737 cytoplasm IBA,IDA 9852149
GO:0005764 colocalizes_with lysosome IDA 24006491
GO:0005769 colocalizes_with early endosome IDA 24006491
GO:0005770 colocalizes_with late endosome IDA 24006491
genes like me logo Genes that share ontologies with MYO5A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYO5A Gene

Pathways & Interactions for MYO5A Gene

PathCards logo

SuperPathways for MYO5A Gene

SuperPathway Contained pathways
1 PAK Pathway
.56
.56
.36
2 Actin Nucleation by ARP-WASP Complex
.66
.35
3 RhoGDI Pathway
.33
.33
4 Regulation of actin dynamics for phagocytic cup formation
5 Innate Immune System
genes like me logo Genes that share pathways with MYO5A: view

Pathways by source for MYO5A Gene

11 Qiagen pathways for MYO5A Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

SIGNOR curated interactions for MYO5A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYO5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006892 post-Golgi vesicle-mediated transport IMP 24006491
GO:0007015 actin filament organization IBA 21873635
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport ISS --
GO:0030048 actin filament-based movement NAS 10448864
genes like me logo Genes that share ontologies with MYO5A: view

Drugs & Compounds for MYO5A Gene

(5) Drugs for MYO5A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for MYO5A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYO5A: view

Transcripts for MYO5A Gene

mRNA/cDNA for MYO5A Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO5A

Alternative Splicing Database (ASD) splice patterns (SP) for MYO5A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39
SP1: - -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for MYO5A Gene

GeneLoc Exon Structure for
MYO5A

Expression for MYO5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYO5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO5A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.7) and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for MYO5A Gene

This gene is overexpressed in Frontal cortex (22.4), Fetal Brain (14.5), Brain (11.5), and Retina (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYO5A Gene



Protein tissue co-expression partners for MYO5A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYO5A

SOURCE GeneReport for Unigene cluster for MYO5A Gene:

Hs.21213

mRNA Expression by UniProt/SwissProt for MYO5A Gene:

Q9Y4I1-MYO5A_HUMAN
Tissue specificity: Detected in melanocytes.

Evidence on tissue expression from TISSUES for MYO5A Gene

  • Nervous system(5)
  • Skin(4.6)
  • Eye(3)
  • Heart(2.4)
  • Intestine(2.2)
  • Blood(2.2)
  • Kidney(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO5A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
Abdomen:
  • intestine
  • liver
  • pancreas
  • small intestine
General:
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MYO5A: view

Primer products for research

Orthologs for MYO5A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYO5A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYO5A 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYO5A 29 30
  • 93.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYO5A 29 30
  • 93.37 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYO5A 30
  • 93 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MYO5A 30
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Myo5a 29 16 30
  • 90.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myo5a 29
  • 89.92 (n)
Chicken
(Gallus gallus)
Aves MYO5A 29 30
  • 81.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYO5A 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myo5a 29
  • 76.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia myo5a-prov 29
Zebrafish
(Danio rerio)
Actinopterygii myo5aa 29 30
  • 71.79 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006479 29
  • 51.17 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta didum 29 30 31
  • 50.37 (n)
OneToMany
d 31
  • 28 (a)
Worm
(Caenorhabditis elegans)
Secernentea hum-2 29 30 31
  • 47.95 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR354W 29
  • 49.35 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO2 29 30
  • 49.09 (n)
ManyToMany
MYO4 30
  • 34 (a)
ManyToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03905g 29
  • 48.27 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons XIE 29
  • 48.91 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0488200 29
  • 48.18 (n)
Os.4855 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10542 30
  • 50 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU11354 29
  • 49.45 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13981 29
Species where no ortholog for MYO5A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MYO5A Gene

ENSEMBL:
Gene Tree for MYO5A (if available)
TreeFam:
Gene Tree for MYO5A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO5A: view image
Alliance of Genome Resources:
Additional Orthologs for MYO5A

Paralogs for MYO5A Gene

(23) SIMAP similar genes for MYO5A Gene using alignment to 8 proteins:

  • MYO5A_HUMAN
  • E7ERV5_HUMAN
  • F8W6H6_HUMAN
  • F8WE88_HUMAN
  • G3V394_HUMAN
  • G3V3C9_HUMAN
  • O95317_HUMAN
  • Q9UES5_HUMAN
genes like me logo Genes that share paralogs with MYO5A: view

Variants for MYO5A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO5A Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
768710 Benign: not provided 52,375,355(-) G/.
NM_000259.3(MYO5A):c.2526T>C (p.Ile842=)
SYNONYMOUS_VARIANT,NO_SEQUENCE_ALTERATION
768712 Benign: not provided 52,397,434(-) T/.
NM_000259.3(MYO5A):c.1086C>A (p.Asp362Glu)
MISSENSE_VARIANT,NO_SEQUENCE_ALTERATION
975608 Likely Benign: Intellectual disability 52,375,400(-) C/A
NM_001382347.1(MYO5A):c.2481G>T (p.Met827Ile)
MISSENSE
975609 Likely Benign: Intellectual disability 52,397,326(-) A/T
NM_001382347.1(MYO5A):c.1194T>A (p.Asn398Lys)
MISSENSE
998280 Pathogenic: Griscelli syndrome type 1 52,353,622(-) C/A
NM_001382347.1(MYO5A):c.3604G>T (p.Glu1202Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYO5A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYO5A Gene

Variant ID Type Subtype PubMed ID
esv2749695 CNV deletion 23290073
esv2749698 CNV deletion 23290073
esv3303008 CNV tandem duplication 20981092
esv3307732 CNV mobile element insertion 20981092
esv3309175 CNV mobile element insertion 20981092
esv3380447 CNV insertion 20981092
esv3405969 CNV insertion 20981092
esv3581703 CNV loss 25503493
esv3581704 CNV loss 25503493
esv3581706 CNV loss 25503493
esv3636486 CNV loss 21293372
esv4732 OTHER complex 18987735
nsv1054899 CNV loss 25217958
nsv1108955 CNV deletion 24896259
nsv1138372 CNV deletion 24896259
nsv471245 CNV gain 18288195
nsv477420 CNV novel sequence insertion 20440878
nsv507781 OTHER sequence alteration 20534489
nsv819139 CNV loss 19587683
nsv952630 CNV duplication 24416366
nsv976936 CNV duplication 23825009

Variation tolerance for MYO5A Gene

Residual Variation Intolerance Score: 1.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.91; 83.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO5A Gene

Human Gene Mutation Database (HGMD)
MYO5A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO5A
Leiden Open Variation Database (LOVD)
MYO5A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO5A Gene

Disorders for MYO5A Gene

MalaCards: The human disease database

(19) MalaCards diseases for MYO5A Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
griscelli syndrome, type 1
  • gs1
griscelli syndrome, type 3
  • gs3
acrocephalopolydactylous dysplasia
  • elejalde syndrome
griscelli syndrome
  • chediak-higashi-like syndrome
pathologic nystagmus
  • nystagmus
- elite association - COSMIC cancer census association via MalaCards
Search MYO5A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYO5A_HUMAN
  • Griscelli syndrome 1 (GS1) [MIM:214450]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities. {ECO:0000269 PubMed:10704277}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. {ECO:0000269 PubMed:12897212}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Elejalde syndrome (ELEJAS) [MIM:256710]: Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I. {ECO:0000269 PubMed:12058346}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MYO5A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MYO5A: view

No data available for Genatlas for MYO5A Gene

Publications for MYO5A Gene

  1. Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene. (PMID: 8188282) Engle LJ … Kennett RH (Genomics 1994) 2 3 4 22
  2. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (PMID: 12897212) Ménasché G … de Saint Basile G (The Journal of clinical investigation 2003) 3 4 72
  3. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. (PMID: 12058346) Anikster Y … Hurvitz H (American journal of human genetics 2002) 3 4 72
  4. arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (PMID: 10733681) Lambert J … Messiaen L (The Journal of investigative dermatology 2000) 3 4 40
  5. Myosin-V is a processive actin-based motor. (PMID: 10448864) Mehta AD … Cheney RE (Nature 1999) 3 4 22

Products for MYO5A Gene

Sources for MYO5A Gene