AT-hook DNA binding motif containing 1 (AHDC1)

AHDC1 is a nuclear protein distinguished by its two AT-hook DNA-binding motifs, which facilitate its association with AT-rich DNA regions[1][4]. The AT-hook domain allows binding to the minor groove of DNA, altering chromatin architecture and influencing transcription[3][6]. AHDC1 participates in the regulation of gene expression during development, particularly in patterning the epidermis and epithelial morphogenesis[7]. Mutations—especially truncating or missense variants—lead to Xia-Gibbs syndrome, characterized by developmental delay, intellectual disability, hypotonia, sleep disturbances, limited speech, and distinct dysmorphic features[1][4][7]. AHDC1 is also reported to influence tumor progression in cancer contexts via regulatory RNA networks[4]. There is so far no evidence of direct drug interactions, and it is not considered a conventional therapeutic target, but its mutation status serves as a genetic biomarker for certain syndromic diseases[1][4][7].

Other names

AHDC1MRD25Transcription factor GibbinDJ159A19.3RP1-159A19.1XIGISAT-hook DNA-binding motif-containing protein 1transcription factor Gibbin