BC104035
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
37,087 Da
NCBI Official Full Name
Homo sapiens ADP-ribosylation factor-like 13B, mRNA
NCBI Official Synonym Full Names
ADP-ribosylation factor-like 13B
NCBI Protein Information
ADP-ribosylation factor-like protein 13B; ADP-ribosylation factor-like 2-like 1; ARL2-like protein 1
UniProt Protein Name
ADP-ribosylation factor-like protein 13B
UniProt Synonym Protein Names
ADP-ribosylation factor-like protein 2-like 1; ARL2-like protein 1
UniProt Entry Name
AR13B_HUMAN
NCBI Summary for ARL13B
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 Comments for ARL13B
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; sensory cilium biogenesis; interneuron migration from the subpallium to the cortex; small GTPase mediated signal transduction; organelle organization and biogenesis; neural tube patterning; cilium biogenesis; heart looping
Disease: Joubert Syndrome 8
Product References and Citations for anti-ARL13B antibody
(1) Higginbotham,H., Eom,T.Y., Mariani,L.E., et al. Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex. Dev. Cell 23 (5), 925-938 (2012)
Research Articles on ARL13B
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Products associated with anti-ARL13B antibody
Pathways associated with anti-ARL13B antibody
Diseases associated with anti-ARL13B antibody
Organs/Tissues associated with anti-ARL13B antibody
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