PTCHD1 antisense RNA (head to head) (PTCHD1-AS)

PTCHD1 antisense RNA (head to head), abbreviated as PTCHD1-AS, is a long non-coding RNA (lncRNA) located on the X chromosome, oriented head-to-head with the PTCHD1 gene[4][5][6][7]. It does not code for protein. Genetic deletions involving PTCHD1-AS have been strongly linked to susceptibility for autism spectrum disorder (ASD) in males, particularly with deficits in social behavior and repetitive actions without intellectual disability or ADHD[1][3]. Experimental studies in human neurons and knockout mice indicate its critical role in regulating synaptic function and gene expression pathways involved in neurodevelopment, especially in GABAergic regions like the striatum[1][3]. While also known by aliases such as DDX53-AS1 and PHEX-AS1, PTCHD1-AS is not a conventional therapeutic target (such as a receptor or enzyme) and there are no drugs targeting it directly. Its precise biological function is under investigation, though it may offer insights into the molecular basis of ASD and related neurological conditions[1][3][4][5].

Other names

PTCHD1AS1PTCHD1AS2DDX53-AS1DDX53 antisense RNA 1 (non-protein coding)PHEX antisense RNA 1 (non-protein coding)PHEX-AS1