GeneID: 52

Description:
The MYH9 gene encodes the heavy chain of non-muscle myosin IIA. Myosins are motor proteins and comprise a family of thirteen members. Myosin II functions in muscle contraction and has three forms; myosin IIA, myosin IIB and myosin IIC. These play roles in cell movement, maintenance of cell shape and cytokinesis. Myosin II consists of two heavy chains and four light chains. The heavy chains have a head domain and a tail domain. The head domain binds actin and has ATPase activity. The tail domain interacts with other myosin tails to form thick filaments, which compose part of the contractile apparatus in muscle. Myosin II is present in nearly all eukaryotic cells, although certain blood cells such as platelets and leukocytes use only myosin IIA. Polymorphisms in this gene are found to be associated with proteinuria, focal segmental glomerulosclerosis and end-stage kidney disease in sickle cell nephropathy in African Americans.

Synonyms: EPSTS , FTNS , MHA , NMHC-II-A , NMMHCA

Comments:
N/A

Number of entries/variants: 12

1. Betapudi V, Myosin II motor proteins with different functions determine the fate of lamellipodia extension during cell spreading., PLoS ONE , 5(1), e8560, 2010 PubMed
2. Genovese G, Tonna SJ, Knob AU, Appel GB, Katz A, Bernhardy AJ, Needham AW, Lazarus R, Pollak MR, A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9., Kidney Int. , 78(7), 698-704, 2010 PubMed
3. Ashley-Koch AE, Okocha EC, Garrett ME, Soldano K, De Castro LM, Jonassaint JC, Orringer EP, Eckman JR, Telen MJ, MYH9 and APOL1 are both associated with sickle cell disease nephropathy., Br. J. Haematol. , 155(3), 386-94, 2011 PubMed