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.

Classification:

Primary antibody

Alternative names:

CE104

Species reactivity:

Human, Mouse

Host:

Rabbit

Isotype:

IgG

Immunogen:

Synthesized peptide derived from human CE104

Concentration:

1 mg/ml

Molecular weight:

101750

Applications:

WB

Storage:

-20°C for 1 year

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