Recombinant Human CEP104 Protein, Myc/DDK-tagged, C13 and N15-labeled

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Recombinant Human CEP104 Protein, Myc/DDK-tagged, C13 and N15-labeled

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Cat.No. : CEP104-4036H
Product Overview : KIAA0562 MS Standard C13 and N15-labeled recombinant protein (NP_055519) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.
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 : MPHKIGFVVV SSSGHEDGFS ARELMIHAPT VSGWRSPRFC QFPQEIVLQM VERCRIRKLQ LLAHQYMISS KIEFYISESL PEYFAPYQAE RFRRLGYVSL CDNEKTGCKA RELKSVYVDA VGQFLKLIFH QNHVNKYNIY NQVALVAINI IGDPADFSDE SNTASREKLI DHYLGHNSED PALEGTYARK SDYISPLDDL AFDMYQDPEV AQIIRKLDER KREAVQKERY DYAKKLKQAI ADLQKVGERL GRYEVEKRCA VEKEDYDLAK EKKQQMEQYR AEVYEQLELH SLLDAELMRR PFDLPLQPLA RSGSPCHQKP MPSLPQLEER GTENQFAEPF LQEKPSSYSL TISPQHSAVD PLLPATDPHP KINAESLPYD ERPLPAIRKH YGEAVVEPEM SNADISDARR GGMLGEPEPL TEKALREASS AIDVLGETLV AEAYCKTWSY REDALLALSK KLMEMPVGTP KEDLKNTLRA SVFLVRRAIK DIVTSVFQAS LKLLKMIITQ YIPKHKLSKL ETAHCVERTI PVLLTRTGDS SARLRVTAAN FIQEMALFKE VKSLQIIPSY LVQPLKANSS VHLAMSQMGL LARLLKDLGT GSSGFTIDNV MKFSVSALEH RVYEVRETAV RIILDMYRQH QASILEYLPP DDSNTRRNIL YKTIFEGFAK IDGRATDAEM RARRKAATEE AEKQKKEEIK ALQGQLAALK EIQAEVQEKE SDAVKPKNQD IQGGKAAPAE ALGIPDEHYL DNLCIFCGER SESFTEEGLD LHYWKHCLML TRCDHCKQVV EISSLTEHLL TECDKKDGFG KCYRCSEAVF KEELPRHIKH KDCNPAKPEK LANRCPLCHE NFSPGEEAWK AHLMGPAGCT MNLRKTHILQ KAPALQPGKS SAVAASGPLG SKAGSKIPTP KGGLSKSSSR TYAKRTRTRP LEQKLISEED LAANDILDYK 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.
SDS-PAGE :

Gene Name : CEP104 centrosomal protein 104kDa [ Homo sapiens (human) ]
Official Symbol : CEP104
Synonyms : CEP104; centrosomal protein 104kDa; KIAA0562; centrosomal protein of 104 kDa; GlyBP; glycine; glutamate; thienylcyclohexylpiperidine binding protein; RP1 286D6.4; RP1-286D6.4;
Gene ID : 9731
mRNA Refseq : NM_014704
Protein Refseq : NP_055519
MIM : 616690
UniProt ID : O60308

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