HDHD1 Human

Haloacid Dehalogenase-Like Hydrolase Domain Containing 1 (HDHD1) is a member of the haloacid dehalogenase (HAD) superfamily. This superfamily comprises a diverse group of enzymes that catalyze the transfer of carbon or phosphoryl groups on various substrates. The HAD superfamily is known for its wide distribution and ability to perform a variety of biological functions.

HDHD1, like other members of the HAD superfamily, contains a core catalytic domain characterized by a three-layered α/β sandwich structure. This structure consists of repetitive β-α units adopting the topology typical of the Rossmanoid class of α/β fold . The active site of these enzymes typically includes an aspartate residue that plays a crucial role in nucleophilic catalysis .

HDHD1 is involved in several biological processes, including the regulation of protein translocation within mitochondria and abscisic acid-responsive transcription . The enzyme’s ability to catalyze transfer reactions makes it essential for various metabolic pathways.

The expression of HDHD1 is regulated at multiple levels, including transcriptional and post-transcriptional mechanisms. The gene encoding HDHD1 is located on the X chromosome and is known to escape X inactivation . This unique feature allows for its consistent expression across different tissues.

Mutations or dysregulation of HDHD1 have been associated with certain diseases, including Cat Eye Syndrome . Understanding the function and regulation of HDHD1 can provide insights into the molecular mechanisms underlying these conditions and potentially lead to the development of targeted therapies.