Species Human Entrez 4627 | Human Mouse Ensembl ENSG00000100345 | |
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Aliases MYH9, BDPLT6, DFNA17, EPSTS, FTNS, MHA, NMHC-II-A, NMMHC-IIA, NMMHCA, myosin, heavy chain 9, non-muscle External IDs MGI: 107717 HomoloGene: 129835 GeneCards: MYH9 | ||
Myosin, heavy chain 9, non-muscle is a protein which in humans is encoded by the MYH9 gene.
Contents
Clinical significance
MYH9 polymorphisms have been shown to associate with glomerulosclerosis and non-diabetic end stage renal disease in African Americans and in Hispanic Americans, though it was later shown that two independent variants in the nearby APOL1 gene were responsible for the increased risk of disease.
Model organisms
Model organisms have been used in the study of MYH9 function. A conditional knockout mouse line, called Myh9tm1a(EUCOMM)Wtsi was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on mutant mice and two significant abnormalities were observed. No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.
Interactions
MYH9 has been shown to interact with PRKCE.