RecName: Full=ADP-ribosylation factor-like protein 13B; AltName: Full= - Protein

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Novel compound heterozygous variants in ARL13B lead to Joubert syndrome. [J Cell Physiol. 2024]
Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
Lin Z, Shen Y, Li Y, Lu C, Zhu Y, He R, Cao Z, Yin Z, Gao H, Guo B, et al. J Cell Physiol. 2024 Apr; 239(4):e31189. Epub 2024 Jan 14.
Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules. [Nat Commun. 2018]
Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules.
He K, Ma X, Xu T, Li Y, Hodge A, Zhang Q, Torline J, Huang Y, Zhao J, Ling K, et al. Nat Commun. 2018 Aug 17; 9(1):3310. Epub 2018 Aug 17.
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. [Eur J Hum Genet. 2017]
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah R, Long AB, Ivanova AA, Ali H, Berkel S, Mustafa G, Paramasivam N, Schlesner M, Wiemann S, Wade RC, et al. Eur J Hum Genet. 2017 Dec; 25(12):1324-1334. Epub 2017 Nov 15.

RefSeq genomic sequence
See the genomic reference sequence for the ARL13B gene (NG_017076.1).
RefSeq protein isoforms
See 18 reference sequence protein isoforms for the ARL13B gene.

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Q3SXY8 [Domain Mapping of Disease Mut...]
Q3SXY8
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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Protein