Gene: MYO9A

Alternate names for this Gene: CMS24

Gene Summary: This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome.

Gene is located in Chromosome: 15

Location in Chromosome : 15q23

Description of this Gene: myosin IXA

Type of Gene: protein-coding

rs12902421 in MYO9A gene and Body Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12902421 in MYO9A gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs142345927 in MYO9A gene and MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC PMID 30237576 2019 Autozygome and high throughput confirmation of disease genes candidacy.

PMID 27259756 2016 Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

PMID 26752647 2016 Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

rs2625529 in MYO9A gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2723357 in MYO9A gene and Triglycerides measurement PMID 30108155 2018 Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.

rs2929508 in MYO9A gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.