Pdxdc1, or pyridoxal-dependent decarboxylase domain containing 1, is a gene with diverse potential functions. As a putative enzyme, it could potentially metabolize catecholamine neurotransmitters, suggesting its involvement in neurotransmitter-related pathways [2]. It may also play a role in lipid metabolism as its locus has been associated with circulating phospho-and sphingolipid concentrations [5].

In terms of disease associations, Pdxdc1 has been implicated in multiple conditions. In mice, its expression was reduced in ovariectomized mice compared to sham-operated ones in growth plate and trabecular bone, and both osteoclasts and osteoblasts express it, indicating a potential role in bone metabolism and a shared genetic link between lumbar spine bone mineral density and birth weight [1]. In a schizophrenia endophenotype study, Pdxdc1 mRNA and protein were strongly expressed in the hippocampus, and its levels were inversely correlated with prepulse inhibition of acoustic startle. Suppressing Pdxdc1 protein levels in the hippocampus increased prepulse inhibition, suggesting it could be a potential target for schizophrenia treatment [2]. Genome-wide analysis of high-risk primary brain cancer pedigrees identified Pdxdc1 as a candidate brain cancer predisposition gene [3]. It has also been associated with attention-deficit/hyperactivity disorder (ADHD) through transcriptome-wide association studies [4], and with glioma as a susceptibility gene [7]. Additionally, micro-CNV at 16p13.11, which potentially affects Pdxdc1, was associated with defective cardiac left-right patterning in Chinese patients [6].

In conclusion, Pdxdc1 is a gene with diverse functions, potentially involved in neurotransmitter and lipid metabolism. Studies using mouse models and genetic analyses have revealed its associations with various diseases such as those related to bone health, schizophrenia, brain cancer, ADHD, glioma, and cardiac development. These findings contribute to understanding the biological mechanisms underlying these diseases and may potentially lead to new therapeutic targets.