Rabbit ARL13B Polyclonal Antibody | anti-ARL13B antibody
ARL13B Polyclonal Antibody
Western Blot (WB)
(Western blot analysis of extracts of SKOV3 cells, using ARL13B antibody at 1:1000 dilution.Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.Lysates/proteins: 25ug per lane.Blocking buffer: 3% nonfat dry milk in TBST.Detection: ECL Basic Kit.Exposure time: 30s.)
Immunofluorescence (IF)
(Immunofluorescence analysis of C6 cells using ARL13B antibody (MBS9126992) at dilution of 1:100. Blue: DAPI for nuclear staining.)
Immunofluorescence (IF)
(Immunofluorescence analysis of U-2 OS cells using ARL13B antibody (MBS9126992) at dilution of 1:100. Blue: DAPI for nuclear staining.)
NCBI and Uniprot Product Information
Calculated: 36kDa/37kDa/48kDa
NCBI Description
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Uniprot Description
ARL13B: Defects in ARL13B are the cause of Joubert syndrome type 8 (JBTS8). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Belongs to the small GTPase superfamily. Arf family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: G protein, monomeric; G protein, monomeric, ARF
Chromosomal Location of Human Ortholog: 3q11.1
Cellular Component: intracellular; cilium
Molecular Function: protein binding; GTP binding
Biological Process: formation of radial glial scaffolds; smoothened signaling pathway; dorsal/ventral pattern formation; interneuron migration from the subpallium to the cortex; sensory cilium biogenesis; organelle organization and biogenesis; small GTPase mediated signal transduction; neural tube patterning; cilium biogenesis; heart looping
Disease: Joubert Syndrome 8