MYH8 myosin heavy chain 8

Gene ID: 4626, updated on 3-Apr-2024
Gene type: protein coding
Also known as: DA7; MyHC-pn; gtMHC-F; MyHC-peri

Summary

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Carney complex - trismus - pseudocamptodactyly syndrome MedGen: C1837245OMIM: 608837GeneReviews: Not available	See labs
Hecht syndrome MedGen: C0265226OMIM: 158300GeneReviews: Not available	See labs

Genomic context

Location:: 17p13.1

Sequence:: Chromosome: 17; NC_000017.11 (10390322..10421950, complement)

Total number of exons:: 40

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MYH8 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
MYH8 database
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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