NP_080853.3
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
48,144 Da
NCBI Official Full Name
ADP-ribosylation factor-like protein 13B
NCBI Official Synonym Full Names
ADP-ribosylation factor-like 13B
NCBI Official Synonym Symbols
hnn; Arl2l1; A530097K21Rik; A930014M17Rik; C530009C10Rik [Similar Products]
NCBI Protein Information
ADP-ribosylation factor-like protein 13B; protein hennin; ARL2-like protein 1; ADP-ribosylation factor-like 2-like 1; ADP-ribosylation factor-like protein 2-like 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; Protein hennin
UniProt Synonym Gene Names
UniProt Entry Name
AR13B_MOUSE
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
Cellular Component: cell projection; membrane; plasma membrane; intracellular; cilium
Molecular Function: GTP binding; nucleotide 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; multicellular organismal development; neural tube patterning; cilium biogenesis; heart looping; determination of left/right symmetry
Research Articles on ARL13B
Precautions
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Diseases associated with ARL13B elisa kit
Organs/Tissues associated with ARL13B elisa kit
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