anti-SH3 Domain and Tetratricopeptide Repeats 2 (SH3TC2) Anticorps

SH3TC2 encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. De plus, nous expédions et beaucoup plus de produits pour cette protéine.

afficher tous les anticorps Gène GeneID UniProt
SH3TC2 79628 Q8TF17
SH3TC2 225608 Q80VA5
SH3TC2 307393  
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Top anti-SH3TC2 Anticorps sur anticorps-enligne.fr

Showing 10 out of 33 products:

Catalogue No. Reactivité Hôte Conjugué Application Images Quantité Livraison Prix Détails
Humain Lapin Inconjugué ELISA, WB Western blot analysis SH3TC2 using NIH-3T3 whole cell lysates 100 μL 11 to 12 Days
$390.77
Détails
Humain Lapin Inconjugué IHC, ELISA   100 μg 2 to 3 Days
$302.50
Détails
Humain Lapin Inconjugué ELISA, IHC   100 μL Disponible
$363.46
Détails
Humain Lapin Inconjugué IHC (p), WB Immunohistochemical staining of human cerebellum with SH3TC2 polyclonal antibody  shows strong nucleolar positivity in Purkinje cells. Western blot analysis of Lane 1: RT-4, Lane 2: U-251 MG, Lane 3: Human Plasma, Lane 4: Liver, Lane 5: Tonsil with SH3TC2 polyclonal antibody . 100 μL 11 to 12 Days
$577.33
Détails
Humain Lapin Inconjugué WB Western blot analysis SH3TC2 using NIH-3T3 whole cell lysates. 100 μg 11 to 18 Days
$440.62
Détails
Humain Lapin Alexa Fluor 350 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Alexa Fluor 488 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Alexa Fluor 555 IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin FITC IF (p)   100 μL 14 to 21 Days
$416.90
Détails
Humain Lapin Alexa Fluor 647 IF (p)   100 μL 14 to 21 Days
$416.90
Détails

Plus d’anticorps contre SH3TC2 partenaires d’interaction

Human SH3 Domain and Tetratricopeptide Repeats 2 (SH3TC2) interaction partners

  1. This present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of SH3TC2.

  2. SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients.

  3. In this series of undiagnosed CMT4 patients, SH3TC2 mutation frequency is 30%, confirming that CMT4C may be the most common AR-CMT type.

  4. Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2.

  5. A homozygous missense mutation c.1894G>A of SH3TC2 is associated with Charcot-Marie-Tooth disease type 4C.

  6. DNA sequence analysis in a French-Canadian family revealed a novel combination of 2 known recessive mutations, p.R904X and p.R954X, in the SH3TC2 gene.

  7. The novelty of our data is the relatively high frequency of SH3TC2 and GDAP1 mutations in demyelinating and axonal forms, respectively, of Charcot-Marie-Tooth disease

  8. SH3TC2 is regulated by the transcription factors CREB and SOX10, define a regulatory SNP at this disease-associated locus and reveal SH3TC2 as a candidate modifier locus of CMT disease phenotypes.

  9. Data indicate that the most frequent form is SH3TC2 gene (CMT4C; 57.14%), followed by HK1 gene causative of CMT4G (CMT4G/HMSN-Russe 25%) and NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom; 17.86%).

  10. Mutations in the SH3TC2 gene are a frequent cause of HMSN I in Czech patients.

  11. This study presented evidence that mutations c.279G --> A and c.3676-8G -->A in the SH3TC2 gene cause aberrant splicing and are therefore pathogenic and causal for CMT4C.

  12. Mistargeting of SH3TC2 away from the recycling endosome is the fundamental molecular defect that leads to Charcot-Marie-Tooth disease type 4C.

  13. Missense mutations in the SH3TC2 causing Charcot-Marie-Tooth disease type 4C affect its localization to plasma membrane.

  14. mutations in an uncharacterized transcript, KIAA1985, in 12 families with autosomal recessive neuropathy

  15. a founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

  16. the SH3TC2 p.R1109X mutation is associated with a conserved haplotype and, therefore, may be a private founder mutation for the Gypsy population

  17. Linkage analysis confirmed that all families are linked to CMT4C locus on chromosome 5q32 (multipoint LOD score of 9.06). Haplotype analysis suggests that two SH3TC2 mutations are present in this cohort

  18. Structural alterations to the SH3TC2 gene could possibly predispose to peripheral nerve inflammation.

  19. This paper presents an analysis of the SH3TC2 promoter after identifying a read-through transcript of the SH3TC2 and HTR4 loci. Available data suggests HTR4 is a separate locus with its own promoter, and not the product of a bi-cistronic transcript.

Mouse (Murine) SH3 Domain and Tetratricopeptide Repeats 2 (SH3TC2) interaction partners

  1. The results of this study results indicate that the molecular mechanism for the axonal size sensing is disturbed in Sh3tc2-deficient myelinating Schwann cells.

  2. Our data indicate that the SH3TC2/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination.

  3. Sh3tc2 is specifically expressed in Schwann cells and localizes to the plasma membrane and to the perinuclear endocytic recycling compartment in a mouse experimental model.

SH3TC2 profil antigène

Profil protéine

This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons.

Gene names and symbols associated with SH3TC2

  • SH3 domain and tetratricopeptide repeats 2 (SH3TC2) anticorps
  • SH3 domain and tetratricopeptide repeats 2 (Sh3tc2) anticorps
  • CMT4C anticorps
  • D430044G18Rik anticorps
  • MNMN anticorps
  • RGD1309038 anticorps

Protein level used designations for SH3TC2

SH3 domain and tetratricopeptide repeat-containing protein 2 , SH3 domain and tetratricopeptide repeats-containing protein 2

GENE ID SPECIES
79628 Homo sapiens
225608 Mus musculus
100624660 Sus scrofa
536167 Bos taurus
307393 Rattus norvegicus
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