CE104

BT-AP01359

Rabbit

IgG

20ul,50ul,100ul

Polyclonal

Synthesized peptide derived from human CE104

The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

1 mg/ml

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

-20°C for 1 year

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.

Human: O60308; Mouse: Q80V31;

101750

Human: 9731; Mouse: 230967

CE104

Cell biology

CEP104