3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
40PubMed Papers
14Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingprotein folding chaperone'de novo' cotranslational protein foldinghypertensionresponse to xenobiotic stimulusfibroblastic disordervein disorder
PBDC1 (polysaccharide biosynthesis domain containing 1) is an X-linked gene with predicted roles in protein folding and chaperone function based on GO annotations for protein binding and de novo cotranslational protein folding. The primary known association with PBDC1 involves neurodevelopment; it resides within a 1.7 Mb deletion on chromosome X that segregates with autism spectrum disorder (ASD) in a multiplex family, though ZDHHC15 appears to be the primary candidate gene in this region 1. PBDC1 was identified as one of multiple genes deleted in three family members presenting with ASD and abnormal sensory profiles, with normal cognitive abilities. Limited functional characterization is available; PBDC1 has been detected as a protein showing altered expression in pancreatic beta-cells exposed to DDT toxicity 2, suggesting potential involvement in cellular stress responses, though this appears incidental to toxicology screening rather than reflective of primary gene function. The gene's precise molecular mechanism and clinical significance remain incompletely defined. Further research is needed to establish PBDC1's independent contribution to disease pathology versus its role as part of larger genomic deletions affecting neurodevelopment.
1
PBDC1 is located within a 1.7 Mb chromosome X deletion that segregates with autism spectrum disorder in a multiplex family
PMID: 365650212
PBDC1 expression is altered in pancreatic beta-cells exposed to DDT toxicity
PMID: 33104727β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
response to xenobiotic stimulusOpen Targets
fibroblastic disorderOpen Targets
vein disorderOpen Targets
lymphatic system diseaseOpen Targets
systemic juvenile idiopathic arthritisOpen Targets
ovarian carcinomaOpen Targets
esophageal cancerOpen Targets
gastric cancerOpen Targets
hepatocellular carcinomaOpen Targets
nonpapillary renal cell carcinomaOpen Targets
ovarian serous cystadenocarcinomaOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
No pathogenic variants reported on ClinVar for this gene.