PTCHD1 gene

patched domain containing 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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). [provided by RefSeq, Aug 2011]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Autism, susceptibility to, X-linked 4

From UniProt:

Autism, 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. [MIM:300830]

Cytogenetic Location: Xp22.11, which is the short (p) arm of the X chromosome at position 22.11

Molecular Location: base pairs 23,334,370 to 23,404,374 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp22.11, which is the short (p) arm of the X chromosome at position 22.11
  • AUTSX4