AP2S1 (AP2S1) ELISA Kits

Bezeichnung:
Adaptor-Related Protein Complex 2, sigma 1 Subunit ELISA Kits (AP2S1)
Auf www.antikoerper-online.de finden Sie aktuell 2 Adaptor-Related Protein Complex 2, sigma 1 Subunit (AP2S1) ELISA Kits von 2 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen AP2S1 Antikörper (37) und AP2S1 Proteine (13) 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
list all ELISA KIts Gen GeneID UniProt
AP2S1 1175 P53680
Maus AP2S1 AP2S1 232910 P62743
Ratte AP2S1 AP2S1 65046 P62744

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AP2S1 (AP2S1) ELISA Kits nach Reaktivitäten

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Weitere ELISA Kits für AP2S1 Interaktionspartner

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

  1. CaSR (zeige CASR ELISA Kits) 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 ELISA Kits)-negative patients with suspected FHH (zeige CASR ELISA Kits), 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 ELISA Kits).

  3. our studies demonstrate AP2sigma2 mutations to result in a more severe FHH (zeige CASR ELISA Kits) 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 ELISA Kits) 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) Elisa Kit
  • adaptor-related protein complex 2, sigma 1 subunit (ap2s1) Elisa Kit
  • adaptor-related protein complex 2, sigma 1 subunit (Ap2s1) Elisa Kit
  • AI043088 Elisa Kit
  • AP2S1 Elisa Kit
  • Ap17 Elisa Kit
  • AP17-DELTA Elisa Kit
  • CLAPS2 Elisa Kit
  • DDBDRAFT_0188542 Elisa Kit
  • DDBDRAFT_0234236 Elisa Kit
  • DDB_0188542 Elisa Kit
  • DDB_0234236 Elisa Kit
  • HHC3 Elisa Kit
  • MGC85224 Elisa Kit

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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