The DNMT3 family consists of two active methyltransferases, DNMT3A and DNMT3B, along with a DNMT3-like protein known as DNMT3L.DNMT3B plays a crucial role in regulating specific DNA methylation patterns, particularly during de novo methylation. It may function as atranscriptional corepressor by associating with CBX4 independently of DNA methylation. Mutations in the DNMT3B gene lead toImmunodeficiency-centromeric instability-facial anomalies (ICF) syndrome.
This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described.
This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.
The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
L-DOPA decarboxylase (DDC) is a pyridoxal 5-phosphate (PLP)-dependent enzyme that catalyzes the decarboxylation of L-DOPA to dopamine and the decarboxylation of L-5HTP to serotonin. DDC is also regarded as a general biomarker for neuroendocrine tumors.
Dopamine β-Hydroxylase (DBH) is an enzyme of the copper type II ascorbate-dependent mono-oxygenase family. This enzyme forms homotetramers composed of two noncovalently bound disulfide-linked dimers and is found as both membrane-associated and soluble forms. The soluble form is present in the lumen of secretory granules and is released from cells by exocytosis. DBH converts dopamine to noradrenaline. Deficiency in this enzyme causes a rare disease characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased plasma dopamine levels. Orthostatic hypotension, the main symptom of DBH deficiency, can be alleviated by administration of dihydroxyphenylserine, a synthetic precursor of noradrenaline.
This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene.
Inserisci la tua e-mail e seleziona le aree di interesse per ricevere le ultime novità, approfondimenti e promozioni.
Seleziona uno o più ambiti di interesse per ricevere comunicazioni più utili e mirate.
2025 TEMA Ricerca - All Rights Reserved.
