Dclre1C Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Gene Symbol | DCLRE1C |
| Full Name | DNA Cross-Link Repair 1C (Artemis) |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 64421 |
| Ensembl ID | ENSG00000152457 |
| OMIM ID | 605988 |
| UniProt ID | Q9Y5T5 |
DCLRE1C (Artemis) is an endonuclease that opens hairpin coding ends during V(D)J recombination and processes DNA double-strand breaks. Mutations cause severe combined immunodeficiency (SCID) with radiosensitivity. Artemis has additional roles in non-homologous end joining and telomere maintenance.
The DCLRE1C gene encodes DNA Cross-Link Repair 1C (Artemis), involved in DNA repair and genomic stability:
DCLRE1C is expressed in:
DCLRE1C is implicated in:
| Disease | Association Type | Evidence |
|---|---|---|
| Alzheimer's Disease | Genetic/Expression | L475P |
| Parkinson's Disease | Genetic/Expression | L475P |
| Severe Combined Immunodeficiency | Genetic/Expression | L475P |
| V(D)J Recombination Defects | Genetic/Expression | L475P |
DCLRE1C is relevant for therapeutic development:
| Strategy | Approach | Status |
|---|---|---|
| Gene therapy | AAV-based delivery | Preclinical |
| Small molecules | DNA repair enhancers | Research |
| Combination therapy | PARP inhibitors + radiation | Clinical (cancer) |
DCLRE1C knockout mice exhibit severe combined immunodeficiency due to impaired V(D)J recombination. Neuron-specific knockout models show increased sensitivity to DNA double-strand breaks and progressive neurodegeneration. Studies demonstrate that DCLRE1C deficiency leads to impaired DNA repair in post-mitotic neurons. These models help understand the role of Artemis in neuronal genome maintenance.
Research focuses on understanding how DCLRE1C mutations contribute to neurodegeneration, the relationship between V(D)J recombination proteins and neuronal DNA repair, and developing gene therapy approaches for DCLRE1C deficiency. Studies are also investigating the use of DCLRE1C as a biomarker for neuronal DNA repair capacity in aging and neurodegenerative diseases.
The study of Dclre1C Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.