PTCHD4

PTCHD4 is a protein-coding gene in humans.

Function:

The PTCHD4 gene encodes a protein whose exact function is not fully understood. It belongs to the Patched (PTCH) domain-containing family of proteins. Proteins in this family are typically transmembrane proteins and are often involved in cell signaling pathways. PTCHD4 is hypothesized to play a role in various cellular processes, possibly related to development or cell growth regulation, although concrete evidence is still emerging. Further research is needed to fully elucidate its biochemical activity.

Gene Location:

The PTCHD4 gene is located on chromosome 6 in humans. The specific cytogenetic location is 6q22.33.

Associated Conditions/Diseases:

Currently, there are no well-established and widely recognized diseases or conditions directly linked to mutations or dysregulation of the PTCHD4 gene. However, ongoing research explores potential correlations with various developmental or neurological conditions.

Homology:

PTCHD4 has homologs in other species, suggesting an evolutionarily conserved function. Comparative genomics studies provide insights into its potential roles across different organisms.

Further Research:

Research on PTCHD4 is ongoing to determine its specific cellular function, signaling pathways, and potential involvement in human diseases. Studies focusing on protein interactions, expression patterns, and the effects of gene mutations are actively being conducted.