| Description : |
Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. |
| Protein length : |
815 amino acids |
| Molecular Weight : |
115.760kDa inclusive of tags |
| Source : |
Wheat germ |
| Tissue specificity : |
Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes. |
| Form : |
Liquid |
| Purity : |
Proprietary Purification |
| Storage buffer : |
pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl |
| Storage : |
Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles. |
| Sequences of amino acids : |
MEDGFSSYSSLYDTSSLLQFCNDDSASAASSMEVTDRIAS LEQRVQMQEDDIQLLKSALADVVRRLNITEEQQAVLNRKG PTKARPLMQTLPLRTTVNNGTVLPKKPTGSLPSPSGVRKE TAVPATKSNIKRTSSSERVSPGGRRESNGDSRGNRNRTGS TSSSSSGKKNSESKPKEPVFSAEEGYVKMFLRGRPVTMYM PKDQVDSYSLEAKVELPTKRLKLEWVYGYRGRDCRNNLYL LPTGETVYFIASVVVLYNVEEQLQRHYAGHNDDVKCLAVH PDRITIATGQVAGTSKDGKQLPPHVRIWDSVTLNTLHVIG IGFFDRAVTCIAFSKSNGGTNLCAVDDSNDHVLSVWDWQK EEKLADVKCSNEAVFAADFHPTDTNIIVTCGKSHLYFWTL EGSSLNKKQGLFEKQEKPKFVLCVTFSENGDTITGDSSGN ILVWGKGTNRISYAVQGAHEGGIFALCMLRDGTLVSGGGK DRKLISWSGNYQKLRKTEIPEQFGPIRTVAEGKGDVILIG TTRNFVLQGTLSGDFTPITQGHTDELWGLAINASKSQFLT CGHDKHATLWDAVGHRPVWDKIIEDPAQSSGFHPSGSVVA VGTLTGRWFVFDTGTKDLVTVHTDGNEQLSVMRYSPDGNF LAIGSHDNCIYIYGVSDNGRKYTRVGKCSGHSSFITHLDW SVNSQFLVSNSGDYEILYWVPSACKQVVSVETTRDIEWAT YTCTLGFHVFGVWPEGSDGTDINAVCRAHEKKLLSTGDDF GKVHLFSYPCSQFRAPSHIYGGHSSHVTNVDFLCEDSHLI STGGKDTSIMQWRVI |
| Sequence Similarities : |
Belongs to the WD repeat EMAP family.Contains 10 WD repeats. |
