RAB3GAP1 Antibody, HRP conjugated
-
中文名稱：RAB3GAP1兔多克隆抗體, HRP偶聯
-
貨號：CSB-PA621861LB01HU
-
規格：￥880
-
其他：
產品詳情
-
產品名稱：Rabbit anti-Homo sapiens (Human) RAB3GAP1 Polyclonal antibody
-
Uniprot No.：
-
基因名：RAB3GAP1
-
別名：DKFZp434A012 antibody; KIAA0066 antibody; P130 antibody; Rab3 GAP antibody; Rab3 GAP p130 antibody; RAB3 GTPase activating protein 130 kDa subunit antibody; Rab3 GTPase activating protein catalytic subunit antibody; RAB3 GTPase activating protein subunit 1 (catalytic) antibody; RAB3 GTPase-activating protein 130 kDa subunit antibody; Rab3 GTPase-activating protein catalytic subunit antibody; Rab3-GAP antibody; Rab3-GAP p130 antibody; RAB3GAP antibody; rab3gap1 antibody; RAB3GAP130 antibody; RB3GP_HUMAN antibody; WARBM1 antibody
-
宿主：Rabbit
-
反應種屬：Human
-
免疫原：Recombinant Human Rab3 GTPase-activating protein catalytic subunit protein (527-653AA)
-
免疫原種屬：Homo sapiens (Human)
-
標記方式：HRP
-
克隆類型：Polyclonal
-
抗體亞型：IgG
-
純化方式：>95%, Protein G purified
-
濃度：It differs from different batches. Please contact us to confirm it.
-
保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
產品提供形式：Liquid
-
應用范圍：ELISA
-
Protocols：
-
儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
-
貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
-
用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
-
功能：Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.
-
基因功能參考文獻：
- Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). PMID: 27256633
- show that FOXC1 regulates the expression of RAB3GAP1, RAB3GAP2 and SNAP25 PMID: 28575017
- RAB18 modulates macroautophagy and proteostasis, and is dependent on activity of RAB3GAP1 and RAB3GAP2. PMID: 28342870
- Homozygosity mapping using single nucleotide polymorphism (SNP) microarray data to identify the causative gene in a case with Warburg Micro syndrome (WARBM). PMID: 26138576
- sequencing of RAB3GAP1 revealed novel compound heterozygous mutations in the siblings: a paternally inherited missense mutation (c.560G>C; p.Arg187Pro) in exon 7 and a maternally derived nonsense mutation (c.1009C>T; p.Arg337Ter) in exon 12. PMID: 26421802
- Warburg Micro syndrome is caused by RAB3GAP deficiency. PMID: 26063829
- RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy PMID: 25495476
- results suggest that the binding of vesicle-associated membrane protein-associated protein B(VAP-B) to Rab3 GTPase activating protein (Rab3GAP1) is implicated in the regulation of nuclear envelope formation through ER-Golgi intermediate compartment PMID: 25612670
- A large intragenic homozygous RAB3GAP1 microdeletion is associated with Warburg micro syndrome 1. PMID: 25332050
- The stage catalyzed by Rab3 is in a unidirectional, hierarchical connection in which the intra-acrosomal calcium mobilization arm was subordinated to the fusion protein arm; somewhere after Rab3, the pathways became independent. PMID: 25159528
- Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure PMID: 24891604
- One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 in 5% of cases PMID: 23420520
- This replication and meta-analysis study showed that genetic variation upstream of the RAB3GAP1 gene is highly likely to be a contributor to the genetic risk of keratoconus development. PMID: 23833071
- Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2.[Review] PMID: 23176487
- The RAB3GAP gene encodes a protein which is a key regulator of the Rab3 pathway implicated in exocytic release of ocular and neurodevleopmental trophic factors. PMID: 22876574
- Mutation in RAB3GAP1 is associated with warburg micro syndrome. PMID: 22768674
- study found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds PMID: 20512159
- RAB3GAP1 has been shown to cause Micro syndrome. PMID: 18286824
顯示更多
收起更多
-
相關疾病：Warburg micro syndrome 1 (WARBM1)
-
亞細胞定位：Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.
-
蛋白家族：Rab3-GAP catalytic subunit family
-
組織特異性：Ubiquitous.
-
數據庫鏈接：
Most popular with customers
-
-
YWHAB Recombinant Monoclonal Antibody
Applications: ELISA, WB, IHC, IF, FC
Species Reactivity: Human, Mouse, Rat
-
-
-
-
-
-
