ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene. [5][6] This gene encodes a member of the ADP-ribosylation factor-like family.

2024年12月24日 · ARL13B (ARF Like GTPase 13B) is a Protein Coding gene. Diseases associated with ARL13B include Joubert Syndrome 8 and Joubert Syndrome 1 . Among its related pathways are Selective autophagy and Signaling by Rho GTPases .

2013年6月30日 · Arl13b, a small GTPase of the Arf/Arl family that is mutated in Joubert syndrome, is specifically localized to cilia and controls the microtubule-based, ciliary axoneme structure 10, 25. Deletion...

该基因编码 ADP-核糖基化因子样家族的成员。 编码的蛋白质是一种小 GTPase，包含 N 端和 C 端鸟嘌呤核苷酸结合基序。 这种蛋白质位于纤毛中，在纤毛形成和维持纤毛中发挥作用。 该基因的突变是 Joubert 综合征 8 的原因。 交替剪接导致多个转录本变体。 [RefSeq 提供，2010 年 3 月] 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.

2025年2月8日 · ARL13B regulates IFT-A-mediated retrograde protein trafficking within cilia through its interaction with INPP5E. Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 …

Arl13b (ADP-ribosylation factor-like 13B), an atypical Arf/Arl family , was identified in genetic screening as a protein essential for maintaining the integrity of cilia and neural tubes.

2024年10月10日 · Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation. Hori Y, Kobayashi T, Kikko Y, Kontani K, Katada THori Y, et al. Biochem Biophys Res Commun, 2008 Aug 15. PMID 18554500.

2024年1月14日 · Here, we identified four unreported variants in ARL13B in two patients with the classical features of JBTS. ARL13B is a member of the Ras GTPase family and functions in ciliogenesis and cilia-related signaling. The two missense variants in ARL13B harbored the substitutions of amino acids at evolutionarily conserved positions.

We show Arl13b is localized to the ciliary membrane and regulates tubulin modifications and ciliary length in vitro. Significantly, we found that Smoothened is enriched in Arl13b null fibroblasts, even without Sonic hedgehog stimulation, but that ...

2019年2月20日 · Mutations in the Joubert syndrome-associated small GTPase ARL13B are linked to photoreceptor impairment and vision loss. To determine the role of ARL13B in the development, function, and maintenance of ciliated photoreceptors, we generated a pan-retina knock-out (<i>Six3</i>-Cre) and a rod photorece …