AP2S1 Antibody, Biotin conjugated

Code CSB-PA02604D0Rb
Size US$299
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Product Details

Full Product Name Rabbit anti-Homo sapiens (Human) AP2S1 Polyclonal antibody
Uniprot No. P53680
Target Names AP2S1
Alternative Names Adapter-related protein complex 2 sigma subunit antibody; Adaptor protein complex AP 2 subunit sigma antibody; Adaptor protein complex AP-2 subunit sigma antibody; Adaptor protein complex AP2 subunit sigma antibody; Adaptor related protein complex 2 sigma 1 subunit antibody; AI043088 antibody; AP 17 antibody; AP 2 complex subunit sigma 1 antibody; AP-2 complex subunit sigma antibody; AP17 antibody; AP17 delta antibody; AP2 complex subunit sigma 1 antibody; Ap2s1 antibody; AP2S1_HUMAN antibody; CLAPS 2 antibody; CLAPS2 antibody; Clathrin adaptor complex AP2; sigma subunit antibody; Clathrin adaptor protein AP17 antibody; Clathrin assembly protein 2 small chain antibody; Clathrin associated/assembly/adaptor protein small 2 antibody; Clathrin associated/assembly/adaptor protein small 2; 17-KD antibody; Clathrin associated/assembly/adaptor protein; small 2 (17kD) antibody; Clathrin coat assembly protein AP17 antibody; Clathrin coat associated protein AP17 antibody; Clathrin coat-associated protein AP17 antibody; HA2 17 kDa subunit antibody; MGC62945 antibody; Plasma membrane adaptor AP 2 17 kDa protein antibody; Plasma membrane adaptor AP-2 17 kDa protein antibody; Plasma membrane adaptor AP2 17 kDa protein antibody; Sigma adaptin 3b antibody; Sigma2 adaptin antibody; Sigma2-adaptin antibody
Raised in Rabbit
Species Reactivity Human
Immunogen Recombinant Human AP-2 complex subunit sigma protein (1-142AA)
Immunogen Species Homo sapiens (Human)
Conjugate Biotin
Clonality Polyclonal
Isotype IgG
Purification Method >95%, Protein G purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form Liquid
Tested Applications ELISA
Protocols ELISA Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time 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.

Target Data

Function Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). May also play a role in extracellular calcium homeostasis.
Gene References into Functions
  1. In 33 CASR-negative patients with suspected FHH, Data found two (~6%) with a mutation in AP2S1 (p.Arg15Leu and p.Arg15His). Family screening confirmed the genotype-phenotype correlations. Data did not identify any pathogenic mutations in GNA11. PMID: 27913609
  2. our studies demonstrate AP2sigma2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue. PMID: 26082470
  3. The results affirm that a significant number of patients suspected of having Familial hypocalciuric hypercalcemia but proven negative for CASR mutation have AP2S1 p.R15 mutations. PMID: 24731014
  4. The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that autosomal dominant hypocalcemia 3 (ADH3) may not occur or otherwise represents a rare hypocalcemic disorder. PMID: 24708097
  5. None of the 60 patients presented with nucleotidic changes or copy number variation in the AP2S1 gene, thereby excluding AP2S1 defects as a frequent cause of isolated hypoparathyroidism. PMID: 24423332
  6. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. PMID: 23222959

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Involvement in disease Hypocalciuric hypercalcemia, familial 3 (HHC3)
Subcellular Location Cell membrane, Membrane, coated pit, Peripheral membrane protein, Cytoplasmic side
Protein Families Adaptor complexes small subunit family
Database Links

HGNC: 565

OMIM: 600740

KEGG: hsa:1175

STRING: 9606.ENSP00000263270

UniGene: Hs.119591

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