Entity Details

Primary name PTCHD1
Entity type gene
Source Source Link

Details

PrimaryID139411
RefseqGeneNG_021300
SymbolPTCHD1
Namepatched domain containing 1
ChromosomeX
LocationXp22.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-12-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPTHD1_HUMAN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0007224 smoothened signaling pathway
GO:0007268 chemical synaptic transmission
GO:0007614 short-term memory
GO:0007616 long-term memory
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0021794 thalamus development
GO:0035176 social behavior
GO:0045202 synapse
GO:0050890 cognition
GO:0098976 excitatory chemical synaptic transmission
GO:0098977 inhibitory chemical synaptic transmission

Diseases

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Disease IDSourceNameDescription
300830 OMIMAutism, X-linked 4 (AUTSX4)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 mental retardation. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
PTCHD1DDX58BioGRID32513696 details