| Description : |
This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
86.4 kDa |
| AA Sequence : |
MSLLFSRCNSIVTVKKNKRHMAEVN ASPLKHFVTAKKKINGIFEQLGAYI QESATFLEDTYRNAELDPVTTEEQV LDVKGYLSKVRGISEVLARRHMKVA FFGRTSNGKSTVINAMLWDKVLPSG IGHTTNCFLRVEGTDGHEAFLLTEG SEEKRSAKTVNQLAHALHQDKQLHA GSLVSVMWPNSKCPLLKDDLVLMDS PGIDVTTELDSWIDKFCLDADVFVL VANSESTLMQTEKHFFHKVSERLSR PNIFILNNRWDASASEPEYMEEVRR QHMERCTSFLVDELGVVDRSQAGDR IFFVSAKEVLNARIQKAQGMPEGGG ALAEGFQVRMFEFQNFERRFEECIS QSAVKTKFEQHTVRAKQIAEAVRLI MDSLHMAAREQQVYCEEMREERQDR LKFIDKQLELLAQDYKLRIKQITEE VERQVSTAMAEEIRRLSVLVDDYQM DFHPSPVVLKVYKNELHRHIEEGLG RNMSDRCSTAITNSLQTMQQDMIDG LKPLLPVSVRSQIDMLVPRQCFSLN YDLNCDKLCADFQEDIEFHFSLGWT MLVNRFLGPKNSRRALMGYNDQVQR PIPLTPANPSMPPLPQGSLTQEEFM VSMVTGLASLTSRTSMGILVVGGVV WKAVGWRLIALSFGLYGLLYVYERL TWTTKAKERAFKRQFVEHASEKLQL VISYTGSNCSHQVQQELSGTFAHLC QQVDVTRENLEQEIAAMNKKIEVLD SLQSKAKLLRNKAGWLDSELNMFTH QYLQPSRTRTRPLEQKLISEEDLAA NDILDYKDDDDKV |
| 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. |
