| Description : |
This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
104.3 kDa |
| AA Sequence : |
MPHKIGFVVVSSSGHEDGFSARELM IHAPTVSGWRSPRFCQFPQEIVLQM VERCRIRKLQLLAHQYMISSKIEFY ISESLPEYFAPYQAERFRRLGYVSL CDNEKTGCKARELKSVYVDAVGQFL KLIFHQNHVNKYNIYNQVALVAINI IGDPADFSDESNTASREKLIDHYLG HNSEDPALEGTYARKSDYISPLDDL AFDMYQDPEVAQIIRKLDERKREAV QKERYDYAKKLKQAIADLQKVGERL GRYEVEKRCAVEKEDYDLAKEKKQQ MEQYRAEVYEQLELHSLLDAELMRR PFDLPLQPLARSGSPCHQKPMPSLP QLEERGTENQFAEPFLQEKPSSYSL TISPQHSAVDPLLPATDPHPKINAE SLPYDERPLPAIRKHYGEAVVEPEM SNADISDARRGGMLGEPEPLTEKAL REASSAIDVLGETLVAEAYCKTWSY REDALLALSKKLMEMPVGTPKEDLK NTLRASVFLVRRAIKDIVTSVFQAS LKLLKMIITQYIPKHKLSKLETAHC VERTIPVLLTRTGDSSARLRVTAAN FIQEMALFKEVKSLQIIPSYLVQPL KANSSVHLAMSQMGLLARLLKDLGT GSSGFTIDNVMKFSVSALEHRVYEV RETAVRIILDMYRQHQASILEYLPP DDSNTRRNILYKTIFEGFAKIDGRA TDAEMRARRKAATEEAEKQKKEEIK ALQGQLAALKEIQAEVQEKESDAVK PKNQDIQGGKAAPAEALGIPDEHYL DNLCIFCGERSESFTEEGLDLHYWK HCLMLTRCDHCKQVVEISSLTEHLL TECDKKDGFGKCYRCSEAVFKEELP RHIKHKDCNPAKPEKLANRCPLCHE NFSPGEEAWKAHLMGPAGCTMNLRK THILQKAPALQPGKSSAVAASGPLG SKAGSKIPTPKGGLSKSSSRTYAKR TRTRPLEQKLISEEDLAANDILDYK DDDDKV |
| 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. |
