HYDIN axonemal central pair apparatus protein 2 (HYDIN2)

HYDIN axonemal central pair apparatus protein 2 (HYDIN2) is a gene located on chromosome 1q21.2 in humans and is a paralog of the HYDIN gene[2][3]. HYDIN2 arose via a genomic duplication event that includes exons 6–84 of the original HYDIN, with the duplicated exons exhibiting over 98% sequence identity to their HYDIN counterparts[2]. The unique exons at HYDIN2’s 5’ and 3’ ends distinguish it from HYDIN. While the canonical HYDIN is essential for ciliary motility and mutations lead to disorders such as hydrocephalus and primary ciliary dyskinesia, the precise biological function of HYDIN2 is not fully characterized[2][3]. HYDIN2 is highly homologous to the original HYDIN and complicates genetic testing for ciliary dyskinesia due to its sequence similarity[2]. There is currently no evidence that HYDIN2 itself is a therapeutic target, nor are there known drug interactions or roles as a biomarker. No direct association with canonical diseases is reported; however, its presence in the 1q21.1 region, a hotspot for duplications/deletions linked to neurodevelopmental disorders and head size abnormalities, has prompted inquiry into its potential developmental roles[3].

Other names

HYDIN2HYDIN axonemal central pair apparatus protein 2