protein
Patched domain-containing protein 1
Gene
PTCHD1
Organism
Homo sapiens(9606)
Length
888 aa
Mass
101,341 Da
PTCHD1 encodes patched domain-containing protein 1, a 888-amino acid protein required for development and function of the thalamic reticular nucleus (TRN), a critical thalamic structure involved in thalamocortical transmission, sleep rhythm generation, sensorimotor processing, and attention (UniProt: Q96NR3). The protein can bind cholesterol in vitro, suggesting a potential role in lipid-dependent signaling.
PTCHD1 is expressed in neural tissues where it supports thalamic circuit development and function. Mutations in PTCHD1 are associated with autism, X-linked 4 (AUTSX4), a pervasive developmental disorder characterized by impairments in social interaction and communication, restricted interests, and developmental abnormalities by age 3 years, often accompanied by moderate intellectual disability (UniProt: Q96NR3).
PTCHD1 is curated in SFARI as a syndromic autism-associated gene (SFARI Cat S), reflecting its role in X-linked autism with intellectual disability. The protein's functions in thalamic circuitry suggest that disruption of TRN development or function may contribute to the sensorimotor and attentional deficits observed in AUTSX4.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention. Can bind cholesterol in vitro (PubMed:36769003)
Disease associations
Autism, X-linked 4AUTSX4
A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.
Sources
Last updated 5/6/2026, 5:24:58 AM