Patched Domain Containing 1 Protéines (PTCHD1)

PTCHD1 encodes a membrane protein with a patched domain. De plus, nous expédions PTCHD1 Anticorps (35) et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
PTCHD1 139411 Q96NR3
PTCHD1 211612 Q14B62
Rat PTCHD1 PTCHD1 317517  
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Top PTCHD1 Protéines sur anticorps-enligne.fr

Showing 3 out of 3 products:

Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Souris rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Connectez-vous pour afficher 60 to 65 Days
$7,639.51
Détails
Cellules d'insectes Humain rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Connectez-vous pour afficher 60 to 65 Days
$10,888.92
Détails
Wheat germ Humain GST tag 10 μg Connectez-vous pour afficher 11 to 12 Days
$414.29
Détails

PTCHD1 Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human ,
,
Mouse (Murine)

Plus protéines pour Patched Domain Containing 1 (PTCHD1) partenaires d'interaction

Human Patched Domain Containing 1 (PTCHD1) interaction partners

  1. both common and rare PTCHD1 variants contribute to autism spectrum disorder.

  2. Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors.

  3. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

  4. Systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with autism spectrum disorder and intellectual disability.

Mouse (Murine) Patched Domain Containing 1 (PTCHD1) interaction partners

  1. The Ptchd1 protein plays a critical role in the dentate gyrus and is associated with dendritic trafficking.

  2. thalamic reticular nucleus-restricted deletion of Ptchd1 leads to attention deficits and hyperactivity, both of which are rescued by pharmacological augmentation of small conductance calcium-dependent potassium channel (Montrer KCNAB2 Protéines) activity

Profil protéine PTCHD1

Profil protéine

This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286).

Gene names and symbols associated with PTCHD1

  • patched domain containing 1 (PTCHD1)
  • patched domain containing 1 (Ptchd1)
  • 9630036J22Rik Protéine
  • AI848149 Protéine
  • Gm387 Protéine
  • RGD1564527 Protéine

Protein level used designations for PTCHD1

patched domain-containing protein 1

GENE ID SPECIES
139411 Homo sapiens
491775 Canis lupus familiaris
536443 Bos taurus
211612 Mus musculus
317517 Rattus norvegicus
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