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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. Note: This description may include information from UniProtKB.
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| Protein type: G protein, monomeric; G protein, monomeric, ARF |
| Chromosomal Location of Human Ortholog: 3q11.1-q11.2 |
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Cellular Component: cilium
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Molecular Function: protein binding
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Biological Process: formation of radial glial scaffolds; interneuron migration from the subpallium to the cortex; neural tube patterning; smoothened signaling pathway
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Disease: Joubert Syndrome 8
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Reference #:
Q3SXY8
(UniProtKB)
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Alt. Names/Synonyms: ADP-ribosylation factor-like 13B; ADP-ribosylation factor-like 2-like 1; ADP-ribosylation factor-like protein 13B; ADP-ribosylation factor-like protein 2-like 1; AR13B; ARL13B; ARL2-like protein 1; ARL2L1; DKFZp686E2075; DKFZp686L2472; DKFZp686M2074; DKFZp761H079; JBTS8; MGC120611; MGC120612
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Gene Symbols: ARL13B
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Molecular weight:
48,643 Da
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Basal Isoelectric point:
6.2
Predict pI for various phosphorylation states
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