| Description : |
This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
59.4 kDa |
| AA Sequence : |
MPWRRRRNRVSALEGGREEEAPPEA AAVPPALLTSPQQTEAAAERILLRG IFEIGRDSCDVVLSERALRWRPIQP ERPAGDSKYDLLCKEEFIELKDIFS VKLKRRCSVKQQRSGTLLGITLFIC LKKEQNKLKNSTLDLINLSEDHCDI WFRQFKKILAGFPNRPKSLKILLNP QSHKKEATQVYYEKVEPLLKLAGIK TDVTIMEYEGHALSLLKECELQGFD GVVCVGGDGSASEVAHALLLRAQKN AGMETDRILTPVRAQLPLGLIPAGS TNVLAHSLHGVPHVITATLHIIMGH VQLVDVCTFSTAGKLLRFGFSAMFG FGGRTLALAEKYRWMSPNQRRDFAV VKALAKLKAEDCEISFLPFNSSDDV QERRAQGSPKSDCNDQWQMIQGQFL NVSIMAIPCLCSVAPRGLAPNTRLN NGSMALIIARNTSRPEFIKHLKRYA SVKNQFNFPFVETYTVEEVKVHPRN NTGGYNPEEEEDETASENCFPWNVD GDLMEVASEVHIRLHPRLISLYGGS MEEMIPKTRTRPLEQKLISEEDLAA 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. |
