GeneID: 330

Description:
The PSMD3 (proteasome 26S subunit, non-ATPase 3) gene encodes a component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Single nucleotide polymorphisms in this gene are associated with neutrophil count. The CSF3 (colony stimulating factor 3) gene encodes a cytokine that controls the production, differentiation, and function of granulocytes. Genetic variance in the PSMD3-CSF3 intergenic region associated with haematological parameters (e.g., white blood cell count).

Synonyms: N/A

Comments:
N/A

Number of entries/variants: 1

1. Kanayama HO, Tamura T, Ugai S, Kagawa S, Tanahashi N, Yoshimura T, Tanaka K, Ichihara A, Demonstration that a human 26S proteolytic complex consists of a proteasome and multiple associated protein components and hydrolyzes ATP and ubiquitin-ligated proteins by closely linked mechanisms., Eur. J. Biochem., 206(2), 567-78, 1992 PubMed
2. Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015 PubMed