| Description : |
This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
75.8 kDa |
| AA Sequence : |
MSDPEGETLRSTFPSYMAEGERLYL CGEFSKAAQSFSNALYLQDGDKNCL VARSKCFLKMGDLERSLKDAEASLQ SDPAFCKGILQKAETLYTMGDFEFA LVFYHRGYKLRPDREFRVGIQKAQE AINNSVGSPSSIKLENKGDLSFLSK QAENIKAQQKPQPMKHLLHPTKGEP KWKASLKSEKTVRQLLGELYVDKEY LEKLLLDEDLIKGTMKGGLTVEDLI MTGINYLDTHSNFWRQQKPIYARER DRKLMQEKWLRDHKRRPSQTAHYIL KSLEDIDMLLTSGSAEGSLQKAEKV LKKVLEWNKEEVPNKDELVGNLYSC IGNAQIELGQMEAALQSHRKDLEIA KEYDLPDAKSRALDNIGRVFARVGK FQQAIDTWEEKIPLAKTTLEKTWLF HEIGRCYLELDQAWQAQNYGEKSQQ CAEEEGDIEWQLNASVLVAQAQVKL RDFESAVNNFEKALERAKLVHNNEA QQAIISALDDANKGIIRELRKTNYV ENLKEKSEGEASLYEDRIITREKDM RRVRDEPEKVVKQWDHSEDEKETDE DDEAFGEALQSPASGKQSVEAGKAR SDLGAVAKGLSGELGTRSGETGRKL LEAGRRESREIYRRPSGELEQRLSG EFSRQEPEELKKLSEVGRREPEELG KTQFGEIGETKKNRKTRTRPLEQKL 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. |
