DCDC2A

Official Full Name

doublecortin domain containing 2

Organism

Homo sapiens

GeneID

51473

Background

This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]

Synonyms

DCDC2; NSC; RU2; RU2S; DCDC2A; DFNB66; NPHP19;

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Detailed Information

Doublecortin domain containing 2a (DCDC2a) is a highly conserved protein that belongs to the doublecortin (DCX) family of proteins. The DCX family is characterized by the presence of a conserved doublecortin domain, which is involved in various cellular processes such as cell migration, axon guidance, and synaptic plasticity. DCDC2a is particularly known for its role in neuronal development and migration, making it an important molecule in the field of neuroscience.

Structure And Domain Organization of DCDC2a

The DCDC2a protein is composed of a series of structural domains that give it its unique functional properties. The primary structure of DCDC2a consists of a conserved N-terminal doublecortin domain (DC domain), a variable central region, and a highly conserved C-terminal region. The DC domain is the most conserved region of the protein and is responsible for its interaction with other cellular proteins. The central region contains several functional domains, including a leucine-rich repeat (LRR) domain, a coiled-coil domain, and a cysteine-rich domain. The C-terminal region is responsible for the interaction of DCDC2a with microtubules, which is crucial for its role in neuronal migration.

Functional Roles of DCDC2a

DCDC2a is involved in several cellular processes, including neuronal development, migration, and synaptic plasticity. In the developing nervous system, DCDC2a is expressed in migrating neurons and plays a critical role in guiding these neurons to their appropriate targets. DCDC2a interacts with other cellular proteins, such as microtubules and actin filaments, to regulate neuronal migration. Moreover, it has been shown that DCDC2a is involved in the regulation of axon guidance and synaptic plasticity, making it a key molecule in neural circuit formation and function.

DCDC2a Mutation Causes Neurological Disease

DCDC2a is a highly conserved protein that plays a crucial role in neuronal development and function. It is involved in various cellular processes, including neuronal migration, axon guidance, and synaptic plasticity. DCDC2a has also been implicated in various neurological disorders, such as autism spectrum disorder (ASD), schizophrenia, and epilepsy. These disorders are characterized by abnormalities in neural development and function, and studies have shown that mutations in the DCDC2a gene can lead to these neurological conditions. For example, mutations in the DCDC2a gene have been identified in patients with ASD, and these mutations are associated with altered neuronal migration and synaptic plasticity.

DCDC2a has become a target for therapeutic intervention in these conditions.Recent studies have provided new insights into the role of DCDC2a in various cellular processes and neurological disorders. For example, researchers have identified new roles for DCDC2a in axon guidance and synaptic plasticity, as well as the mechanisms by which it regulates these processes.

References:

Vogel, Georg-Friedrich et al. "Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation." European journal of human genetics : EJHG vol. 28,6 (2020): 840-844. doi:10.1038/s41431-020-0613-0
Lin, Yuxiang et al. "Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family." Clinics and research in hepatology and gastroenterology vol. 44,5 (2020): e103-e108. doi:10.1016/j.clinre.2020.02.015

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