Gene: MYH11

Alternate names for this Gene: AAT4|FAA4|SMHC|SMMHC

Gene Summary: The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.11

Description of this Gene: myosin heavy chain 11

Type of Gene: protein-coding

Gene: NDE1

Alternate names for this Gene: HOM-TES-87|LIS4|MHAC|NDE|NUDE|NUDE1

Gene Summary: This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.11

Description of this Gene: nudE neurodevelopment protein 1

Type of Gene: protein-coding

rs397514037 in MYH11;NDE1 gene and Aortic aneurysm, familial thoracic 4 PMID 21937134 2013 Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

PMID 27611364 2016 Genetic testing of 248 Chinese aortopathy patients using a panel assay.

PMID 16444274 2006 Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.