PTCHD3
Description
The PTCHD3 (patched domain containing 3 (gene/pseudogene)) is a protein-coding gene located on chromosome 10.
PTCHD3 is a gene located on the X chromosome that plays a role in development, particularly in the brain and nervous system. It encodes a protein that is involved in cell signaling and communication. Mutations in the PTCHD3 gene have been linked to a variety of neurodevelopmental disorders, including autism spectrum disorder and intellectual disability.
PTCHD3 might be involved in sperm development or its function, as suggested by research (PubMed:17904097). However, studies indicate it may not be crucial for the process of spermatogenesis or male fertility (PubMed:21439084).
PTCHD3 is also known as PTR.
Associated Diseases
- nanophthalmia
- nanophthalmos 2
- cancer
- Pallister-Hall syndrome
- Miyoshi myopathy
- Bartsocas-Papas syndrome 1
- Timothy syndrome
