anti-AP2S1 (AP2S1) Antikörper

Bezeichnung:
anti-Adaptor-Related Protein Complex 2, sigma 1 Subunit Antikörper (AP2S1)
Auf www.antikoerper-online.de finden Sie aktuell 37 Adaptor-Related Protein Complex 2, sigma 1 Subunit (AP2S1) Antikörper von 8 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen AP2S1 Proteine (13) und AP2S1 Kits (2) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 55 AP2S1 Produkte verfügbar.
Synonyme:
AI043088, AP2S1, Ap17, AP17-DELTA, CLAPS2, DDBDRAFT_0188542, DDBDRAFT_0234236, DDB_0188542, DDB_0234236, HHC3, MGC85224

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anti-Human AP2S1 Antikörper:

anti-Mouse (Murine) AP2S1 Antikörper:

anti-Rat (Rattus) AP2S1 Antikörper:

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Am meisten referenzierte anti-AP2S1 Antikörper

  1. Human Monoclonal AP2S1 Primary Antibody für WB - ABIN394535 : Ewing, Chu, Elisma, Li, Taylor, Climie, McBroom-Cerajewski, Robinson, OConnor, Li, Taylor, Dharsee, Ho, Heilbut, Moore, Zhang, Ornatsky, Bukhman, Ethier, Sheng, Vasilescu, Abu-Farha, Lambert, Duewel et al.: Large-scale mapping of human protein-protein interactions by mass spectrometry. ... in Molecular systems biology 2007 (PubMed)
    Zeige alle 5 Referenzen für 394535

Weitere Antikörper gegen AP2S1 Interaktionspartner

Human Adaptor-Related Protein Complex 2, sigma 1 Subunit (AP2S1) Interaktionspartner

  1. CaSR (zeige CASR Antikörper) and AP2S1 sequencing is worthwhile in patients with familial hyperparathyroidism and phenotype suggesting familial hypocalciuric hypercalcemia as it can diagnose up to 50% of cases.

  2. In 33 CASR (zeige CASR Antikörper)-negative patients with suspected FHH (zeige CASR Antikörper), 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 (zeige GNA11 Antikörper).

  3. our studies demonstrate AP2sigma2 mutations to result in a more severe FHH (zeige CASR Antikörper) phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue.

  4. The results affirm that a significant number of patients suspected of having Familial hypocalciuric hypercalcemia but proven negative for CASR (zeige CASR Antikörper) mutation have AP2S1 p.R15 mutations.

  5. 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.

  6. 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.

  7. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

AP2S1 Antigen-Profil

Beschreibung des Gens

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing has been observed in this gene and results in two known transcripts.

Alternative names and synonyms associated with AP2S1

  • adaptor-related protein complex 2, sigma 1 subunit (AP2S1) Antikörper
  • adaptor-related protein complex 2, sigma 1 subunit (ap2s1) Antikörper
  • adaptor-related protein complex 2, sigma 1 subunit (Ap2s1) Antikörper
  • AI043088 Antikörper
  • AP2S1 Antikörper
  • Ap17 Antikörper
  • AP17-DELTA Antikörper
  • CLAPS2 Antikörper
  • DDBDRAFT_0188542 Antikörper
  • DDBDRAFT_0234236 Antikörper
  • DDB_0188542 Antikörper
  • DDB_0234236 Antikörper
  • HHC3 Antikörper
  • MGC85224 Antikörper

Bezeichner auf Proteinebene für AP2S1

adaptor-related protein complex 2, sigma 1 subunit , AP-2 complex subunit sigma , AP-2 complex subunit sigma isoform AP17 , sigma adaptin , HA2 17 kDa subunit , adaptor protein complex AP-2 subunit sigma , clathrin assembly protein 2 small chain , clathrin coat assembly protein AP17 , clathrin coat-associated protein AP17 , clathrin-associated/assembly/adaptor protein, small 2 (17kD) , plasma membrane adaptor AP-2 17 kDa protein , sigma2-adaptin , adapter-related protein complex 2 sigma subunit , sigma-adaptin 3b , clathrin-associated protein 17 , AP-2 complex subunit sigma-1

GENE ID SPEZIES
431511 Gallus gallus
456156 Pan troglodytes
549079 Xenopus (Silurana) tropicalis
716911 Macaca mulatta
8627289 Dictyostelium discoideum AX4
447078 Xenopus laevis
476427 Canis lupus familiaris
1175 Homo sapiens
232910 Mus musculus
65046 Rattus norvegicus
536553 Bos taurus
100172940 Pongo abelii
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