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Anti-ARMER/ARL6二磷酸腺苷核糖基化因子6相互作用蛋白抗体
点击次数:190发布时间:2012/12/26 5:31:05
更新日期:2024/9/5 14:43:27
所 在 地:其它
产品型号:BY-6868R
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货号:BY-6868R
英文名称:Anti-ARMER/ARL6
中文名称:二磷酸腺苷核糖基化因子6相互作用蛋白抗体
其他名称:ADP ribosylation factor like 6 interacting protein;ADP-ribosylation factor-like protein 6-interacting protein 1;Aip-1;Aip1;AR6P1_HUMAN;ARL-6-interacting protein 1;ARL6 interacting protein 1;ARL6IP;ARL6IP1;Bardet Biedl syndrome 3 protein;Bardet-Biedl syndrome 3 protein;BBS3;KIAA0069.
抗体来源:Rabbit
克隆类型:polyclonal
蛋白分子量:predicted molecular weight: 20kDa
纯化方法:affinity purified by Protein A
交叉反应:hu, mo, rat
产品介绍:The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. ARF proteins are important regulators of cellular traffic and are the founding members of an expanding family of homologous proteins and genomic sequences. They depart from other small GTP-binding proteins by a unique structural device that implements front-back communication from the N-terminus to the nucleotide-binding site. Studies of the mouse ortholog of this protein suggest an involvement in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008].Function : Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade. Isoform 2 may be required for proper retinal function and organization.Subunit : Interacts with SEC61B, ARL6IP1, ARL6IP2, ARL6IP3, ARL6IP4 ARL6IP5 and ARL6IP6. Interacts (GTP-bound form) with the BBSome a complex that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10.Subcellular Location : Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Appears in a pattern of punctae flanking the microtubule axoneme that likely correspond to small membrane-associated patches. Localizes to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane.DISEASE : Defects in ARL6 are a cause of Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease.Defects in ARL6 are the cause of retinitis pigmentosa type 55 (RP55) [MIM:613575]. RP55 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.Similarity : Belongs to the small GTPase superfamily. Arf family.