DCT

Official Full Name

dopachrome tautomerase

Organism

Homo sapiens

GeneID

1638

Background

Predicted to enable dopachrome isomerase activity. Involved in response to blue light. Located in intracellular membrane-bounded organelle and plasma membrane. Implicated in oculocutaneous albinism. [provided by Alliance of Genome Resources, Feb 2025]

Synonyms

OCA8; TRP-2; TYRP2;

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Detailed Information

Dopachrome tautomerase (Dct) is a key enzyme involved in the kynurenine metabolism, which is a critical pathway for the degradation of tryptophan, an essential amino acid required for various physiological functions. The Dct enzyme plays a significant role in the conversion of dopachrome into 3-hydroxykynurenine, a precursor for the synthesis of various neurotransmitters and other biologically active compounds. Aberrations in the Dct gene have been implicated in various neurological and psychiatric disorders, making it an attractive target for therapeutic interventions.

Function And Structure of Dct

The Dct enzyme is a member of the cupin superfamily, which is characterized by a conserved catalytic core domain. The enzyme is composed of two main structural domains: the N-terminal domain, which is responsible for substrate binding, and the C-terminal domain, which contains the active site and is involved in catalysis. The active site of Dct contains a cysteine residue that forms a disulfide bond with another cysteine residue in the N-terminal domain, which is essential for the enzyme's catalytic activity.

Regulation of Dct Expression

The expression of the Dct gene is regulated at multiple levels, including transcription, translation, and post-translational modification. Transcription of the Dct gene is controlled by various transcriptional factors, including Sp1 and CREB, which bind to the promoter region of the gene and regulate its expression. The expression of Dct is also influenced by epigenetic mechanisms, such as DNA methylation and histone modification. In addition, Dct expression can be regulated by alternative splicing, which leads to the production of different isoforms of the enzyme with distinct functional properties.

Dct in Human Diseases

Aberrations in the Dct gene have been implicated in various human diseases, including neurological and psychiatric disorders, such as Parkinson's disease, Alzheimer's disease, and schizophrenia. In these diseases, the Dct enzyme is either downregulated or exhibits altered Catalytic activity. This leads to imbalances in kynurenine metabolism, which in turn can result in neurotoxicity and inflammation. Autoimmune diseases are a group of disorders characterized by the immune system attacking healthy cells and tissues, resulting in inflammation and damage. Genes like Dct can influence the immune response, making individuals more susceptible to these conditions.

Research has shown that mutations in the Dct gene can lead to defects in the function of immune cells, causing them to misfire and attack their own tissues. This contributes to the development of various autoimmune diseases, including rheumatoid arthritis, lupus, and diabetes. In addition, studies have found that individuals with a specific variation of the Dct gene are at increased risk for developing multiple sclerosis, an autoimmune disease that affects the central nervous system.

References:

Moolsuwan, Kanya et al. "Dopachrome tautomerase is a retinoblastoma-specific gene, and its proximal promoter is preferentially active in human retinoblastoma cells." Molecular vision vol. 28 192-202. 7 Aug. 2022
Pennamen, Perrine et al. "Dopachrome tautomerase variants in patients with oculocutaneous albinism." Genetics in medicine : official journal of the American College of Medical Genetics vol. 23,3 (2021): 479-487. doi:10.1038/s41436-020-00997-8

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