Patched Domain Containing 1 Proteins (PTCHD1)

PTCHD1 encodes a membrane protein with a patched domain.

list all proteins Gene Name GeneID UniProt
Human PTCHD1 PTCHD1 139411 Q96NR3
Mouse PTCHD1 PTCHD1 211612 Q14B62
Rat PTCHD1 PTCHD1 317517  
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Top PTCHD1 Proteins at antibodies-online.com

Showing 3 out of 3 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
Insect Cells Mouse rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Log in to see 60 to 65 Days
$6,628.57
Details
Insect Cells Human rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Log in to see 60 to 65 Days
$9,444.73
Details
Wheat germ Human GST tag 10 μg Log in to see 11 to 12 Days
$414.29
Details

More Proteins for Patched Domain Containing 1 (PTCHD1) Interaction Partners

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 (show KCNAB2 Proteins) activity

PTCHD1 Protein Profile

Protein Summary

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 protein
  • AI848149 protein
  • Gm387 protein
  • RGD1564527 protein

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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