CE104 Rabbit Polyclonal Antibody - RA31537

CE104 Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: RA31537-50, RA31537-100

Citations, Manuals and MSDS Available upon request.

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. [provided by RefSeq, Feb 2016],

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

Storage Instructions: -20°C/1 year

Recommended dilutions: WB 1：500-2000

Applications: WB

Species Cross-Reactivity: Human; Mouse

GeneID (Human): 9731

SWISS: O60308

Source: Rabbit

Research Use Only