Pcdhgb1, a member of the protocadherin gamma subfamily B, is involved in neural development, synapse function, and memory. It likely participates in cadherin-related signaling pathways, which are crucial for cell-cell adhesion and communication in the nervous system [3]. Understanding its function can provide insights into normal neural development and associated disease mechanisms.

In a study where Brpf1 was knocked out in forebrain excitatory neurons of mice, the expression of Pcdhgb1 was downregulated. This deficiency led to reduced frequency of miniature excitatory postsynaptic currents and impaired spatial and fear memory, suggesting Pcdhgb1 has a role in maintaining normal synaptic transmission and memory function [3]. In patients with adult-onset dystonia, whole-exome sequencing identified rare variants in Pcdhgb1, indicating its potential involvement in this movement disorder [1]. Also, in chronic rhinosinusitis, the transcript of Pcdhgb1 was upregulated in response to systemic corticosteroid therapy in nasal polyp biopsies [2].

In conclusion, Pcdhgb1 is important for neural-related functions such as synaptic transmission and memory. Studies on gene knockout mouse models, like the Brpf1 -deficient mice, have revealed its role in these processes. Its association with adult-onset dystonia and response to corticosteroid therapy in chronic rhinosinusitis further suggest its significance in understanding and potentially treating these disease conditions.

References:

1. Li, Li-Xi, Huang, Jie-Hong, Pan, Li-Zhen, Pan, You-Gui, Jin, Ling-Jing. 2022. Whole-Exome Sequencing Identified Rare Variants in PCDHGB1 in Patients with Adult-Onset Dystonia. In Movement disorders : official journal of the Movement Disorder Society, 37, 1099-1101. doi:10.1002/mds.28965. https://pubmed.ncbi.nlm.nih.gov/35229923/

2. Hoggard, Michael, Jacob, Bincy, Wheeler, David, Douglas, Richard G, Taylor, Michael W. 2020. Multiomic analysis identifies natural intrapatient temporal variability and changes in response to systemic corticosteroid therapy in chronic rhinosinusitis. In Immunity, inflammation and disease, 9, 90-107. doi:10.1002/iid3.349. https://pubmed.ncbi.nlm.nih.gov/33220024/

3. Zhao, Baicheng, Zhang, Hang, Liu, Ying, Liu, Shuai, You, Linya. . Forebrain excitatory neuron-specific loss of Brpf1 attenuates excitatory synaptic transmission and impairs spatial and fear memory. In Neural regeneration research, 19, 1133-1141. doi:10.4103/1673-5374.385307. https://pubmed.ncbi.nlm.nih.gov/37862219/