HYDIN axonemal central pair apparatus protein 2 (pseudogene) (HYDIN2)

HYDIN axonemal central pair apparatus protein 2 (HYDIN2) is a pseudogene in humans, also known as HYDINP1[2][4]. It arose as a segmental duplication of the functional HYDIN gene and shows over 98% sequence homology to HYDIN in the duplicated region[1][3]. HYDIN2 is located on chromosome 1q21.2, while HYDIN is on chromosome 16q22.2; HYDIN2 includes exons 6–84 of HYDIN, with only the first 5 and final 2 exons being unique[1][3]. HYDIN2 does not produce a functional protein, but its presence causes substantial technical challenges in genetic testing for HYDIN mutations due to sequence similarity, especially in primary ciliary dyskinesia diagnostics[1][3][4]. No therapeutic targeting, clinical drugs, or biomarker associations are known for HYDIN2. ENSG00000276298 refers to HYDIN2 (a pseudogene), not the functional HYDIN gene, therefore, it is not a therapeutic or biologically active target. Its main clinical relevance is genomic complexity, as HYDIN2 confounds genetic diagnostics for diseases caused by HYDIN mutations (such as PCD), but itself does not contribute to disease or encode a biologically active protein[1][3][4].

Other names

HYDINP1HYDIN, axonemal central pair apparatus protein pseudogene 1Hydrocephalus inducing homolog 2Hydrocephalus Inducing Homolog 2 (Mouse)