Myosin Heavy Chain 9, Non Muscle (MYH9)

DFNA17; EPSTS; FTNS; MHA; NMHC-II-A; NMMHCA; Nonmuscle Myosin Heavy Chain II-A; Cellular myosin heavy chain, type A; Myosin heavy chain, non-muscle IIa

SPN	T360
HGNC	7579
MGI	107717
PubMed	10973259
RGD	3140
UniProt	P35579
Wiki	MYH9

MYH9 polymorphisms are thought to contribute to glomerulosclerosis and non-diabetic end stage renal disease in African Americans.

This gene encodes a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain. The protein is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in MYH9 are the cause of non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. The genomic coordinates used for the transcript record were based on alignments.

Reference

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