Plekha3, a member of the PLEKHA protein family, is grouped in the PLEKHA3/8 subfamily, distinct from other PLEKHA subfamilies [1]. Although its exact function remains to be fully elucidated, potential associations have been suggested. Bioinformatic analysis of copy number variants (CNVs) in short children born small for gestational age indicated that Plekha3 could be a potential candidate gene for short stature [2]. Genome-wide association studies have identified Plekha3 as one of the significant loci associated with atrioventricular block (AVB), suggesting its possible involvement in cardiac conduction disorders [3].

No findings from KO/CKO mouse models or other loss-of-function experiments were present in the provided references.

In summary, Plekha3 shows potential associations with short stature and cardiac conduction disorders. However, more in-depth research, especially using gene knockout or conditional knockout mouse models, is needed to clearly define its essential biological functions and its role in these disease areas. This will enhance our understanding of the underlying mechanisms related to these conditions.