Home
>
Product
>
Antibody
>
Rabbit Anti-non-muscle Myosin IIA/FITC Conjugated antibody
background:
This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
Function:
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
Subunit:
Interacts with PDLIM2. Interacts with SLC6A4. Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLSLC2). Interacts with RASIP1. Interacts with DDR1. Interacts with SVIL and HTRA3.
Subcellular Location:
Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells.
Tissue Specificity:
In the kidney, expressed in the glomeruli. Also expressed in leukocytes.
DISEASE:
Defects in MYH9 are the cause of May-Hegglin anomaly (MHA). MHA is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukokyte inclusions appearing as highly parallel paracrystalline bodies.
Defects in MYH9 are the cause of Sebastian syndrome (SBS). SBS is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly.
Defects in MYH9 are the cause of Fechtner syndrome (FTNS). FTNS is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally, FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis.
Defects in MYH9 are the cause of Alport syndrome with macrothrombocytopenia (APSM) . APSM is an autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects.
Similarity:
Contains 1 IQ domain.
Contains 1 myosin head-like domain.
Database links:
Entrez Gene: 404108 Cow
Entrez Gene: 4627 Human
Entrez Gene: 17886 Mouse
Entrez Gene: 25745 Rat
Omim: 160775 Human
SwissProt: P35579 Human
SwissProt: Q8VDD5 Mouse
SwissProt: Q62812 Rat
Unigene: 474751 Human
Unigene: 29677 Mouse
Unigene: 2285 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
