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PTCHD1 encodes a membrane protein with a patched domain. Additionally we are shipping PTCHD1 Proteins (3) and many more products for this protein.
Showing 10 out of 34 products:
Human Polyclonal PTCHD1 Primary Antibody for ELISA, WB - ABIN4240447
Pinto, Pagnamenta, Klei, Anney, Merico, Regan, Conroy, Magalhaes, Correia, Abrahams, Almeida, Bacchelli, Bader, Bailey, Baird, Battaglia, Berney, Bolshakova, Bölte, Bolton, Bourgeron, Brennan, Brian et al.: Functional impact of global rare copy number variation in autism spectrum disorders. ... in Nature 2010
both common and rare PTCHD1 variants contribute to autism spectrum disorder.
Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors.
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
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.
The Ptchd1 protein plays a critical role in the dentate gyrus and is associated with dendritic trafficking.
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 Antibodies) activity
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).
patched domain-containing protein 1