| Description : |
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
100.3 kDa |
| AA Sequence : |
MDSNTAPLGPSCPQPPPAPQPQARS RLNATASLEQERSERPRAPGPQAGP GPGVRDAAAPAEPQAQHTRSRERAD GTGPTKGDMEIPFEEVLERAKAGDP KAQTEVGKHYLQLAGDTDEELNSCT AVDWLVLAAKQGRREAVKLLRRCLA DRRGITSENEREVRQLSSETDLERA VRKAALVMYWKLNPKKKKQVAVAEL LENVGQVNEHDGGAQPGPVPKSLQK QRRMLERLVSSESKNYIALDDFVEI TKKYAKGVIPSSLFLQDDEDDDELA GKSPEDLPLRLKVVKYPLHAIMEIK EYLIDMASRAGMHWLSTIIPTHHIN ALIFFFIVSNLTIDFFAFFIPLVIF YLSFISMVICTLKVFQDSKAWENFR TLTDLLLRFEPNLDVEQAEVNFGWN HLEPYAHFLLSVFFVIFSFPIASKD CIPCSELAVITGFFTVTSYLSLSTH AEPYTRRALATEVTAGLLSLLPSMP LNWPYLKVLGQTFITVPVGHLVVLN VSVPCLLYVYLLYLFFRMAQLRNFK GTYCYLVPYLVCFMWCELSVVILLE STGLGLLRASIGYFLFLFALPILVA GLALVGVLQFARWFTSLELTKIAVT VAVCSVPLLLRWWTKASFSVVGMVK SLTRSSMVKLILVWLTAIVLFCWFY VYRSEGMKVYNSTLTWQQYGALCGP RAWKETNMARTQILCSHLEGHRVTW TGRFKYVRVTDIDNSAESAINMLPF FIGDWMRCLYGEAYPACSPGNTSTA EEELCRLKLLAKHPCHIKKFDRYKF EITVGMPFSSGADGSRSREEDDVTK DIVLRASSEFKSVLLSLRQGSLIEF STILEGRLGSKWPVFELKAISCLNC MAQLSPTRRHVKIEHDWRSTVHGAV KFAFDFFFFPFLSAATRTRPLEQKL ISEEDLAANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
