MYH9

Myosin, heavy chain 9, non-muscle is a protein which in humans is encoded by the MYH9 gene.

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

Myh9 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of MYH9 function. A conditional knockout mouse line, called Myh9^{tm1a(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.

See also

• May Hegglin anomaly

External links

• GeneReview/NIH/UW entry on MYH9-Related Disorders

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.