Full product name
CE104
Code
BT-AP01359
Host
Rabbit
Isotype
IgG
Size
20ul,50ul,100ul
Clonality
Polyclonal
Immunogen
Synthesized peptide derived from human CE104
Purification
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Concentration
1 mg/ml
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Storage
-20°C for 1 year
Background
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.
Uniprot accession
Molecular weight
101750
Gene ID
Human: 9731; Mouse: 230967
Synonyms
CE104
Research area
Cell biology
Target protein
CEP104
