R3HCC1, short for R3H domain and coiled-coil containing 1, is a gene whose function is still being explored in relation to various biological processes. From the references, it appears to be involved in pathways related to drug toxicity and potentially in immune-related processes. Its genetic alterations may have implications for certain disease conditions, suggesting its importance in understanding disease mechanisms [2,3].

In the context of diabetic foot ulcer (DFU), a Support Vector Machine (SVM) model based on 5 genes including R3HCC1 showed excellent performance in external validation datasets, indicating R3HCC1's potential as a biomarker related to glutamine metabolism and immune infiltration in DFU [1]. Regarding irinotecan-containing chemotherapy for metastatic colorectal cancer (mCRC) and pancreatic cancer, an SNP (c.919G > A, rs2272761) in R3HCC1 was significantly associated with neutropenia, suggesting its potential as a biomarker for irinotecan-associated toxicity [2]. Also, in the study of PinX1 in human cancers, R3HCC1 may co-work with PinX1, though the exact nature of this interaction in tumorigenesis and prognosis is yet to be fully elucidated [3].

In summary, R3HCC1 has potential significance in disease-related biomarker discovery. In DFU, it may be related to glutamine metabolism and immune-related processes, while in cancer chemotherapy, it could be a biomarker for irinotecan-associated toxicity. Its possible interaction with PinX1 in human cancers also indicates its role in tumor-related biological functions. These findings from different disease-based studies contribute to understanding the multiple functions of R3HCC1 and its importance in disease mechanisms and potential biomarker identification [1,2,3].

References:

1. Shi, Hongshuo, Yuan, Xin, Yang, Xiao, Fan, Weijing, Liu, Guobin. 2024. A novel diabetic foot ulcer diagnostic model: identification and analysis of genes related to glutamine metabolism and immune infiltration. In BMC genomics, 25, 125. doi:10.1186/s12864-024-10038-2. https://pubmed.ncbi.nlm.nih.gov/38287255/

2. Kanesada, Kou, Tsunedomi, Ryouichi, Hazama, Shoichi, Ioka, Tatsuya, Nagano, Hiroaki. 2022. Association between a single nucleotide polymorphism in the R3HCC1 gene and irinotecan toxicity. In Cancer medicine, 12, 4294-4305. doi:10.1002/cam4.5299. https://pubmed.ncbi.nlm.nih.gov/36308049/

3. Huang, Wei-Juan, Li, Mei, Jin, Xiao-Han, Zhao, Wei, Tian, Xiao-Peng. 2017. Genetic profile and biological implication of PIN2/TRF1-interacting telomerase inhibitor 1 (PinX1) in human cancers: an analysis using The Cancer Genome Atlas. In Oncotarget, 8, 67241-67253. doi:10.18632/oncotarget.18589. https://pubmed.ncbi.nlm.nih.gov/28978030/