| Property | Value | |---------|-------| | Gene Symbol | ERCC6L2 | | Full Name | ERCC Excision Repair 6-Like 2 | | Chromosome | 9q34.3 | | NCBI Gene ID | [151246](https://www.ncbi.nlm.nih.gov/gene/151246) | | Ensembl ID | ENSG00000171824 | | UniProt ID | [Q3L8U1](https://www.uniprot.org/uniprot/Q3L8U1) | | OMIM | 615472 | | Protein Length | 927 amino acids | | Primary Function | DNA repair, transcription-coupled repair, chromatin remodeling | | Expression | Bone marrow, brain, liver, muscle | | Associated Diseases | Cockayne syndrome-like disorder, bone marrow failure, neurodegeneration | </aside>
ERCC6L2 — ERCC Excision Repair 6-Like 2
Overview
ERCC6L2 (ERCC Excision Repair 6-Like 2) is a DNA repair gene located on chromosome 9q34.3 that encodes a protein with homology to ERCC6 (CSB), a key protein involved in transcription-coupled nucleotide excision repair (TC-NER). The protein contains a SNF2 family ATPase domain and participates in DNA repair, transcription-coupled repair, chromatin remodeling, and mitochondrial function[@ercc6l2_overview][@ercc6l2_uniprot].
| Property | Value | |---------|-------| | Gene Symbol | ERCC6L2 | | Full Name | ERCC Excision Repair 6-Like 2 | | Chromosome | 9q34.3 | | NCBI Gene ID | [151246](https://www.ncbi.nlm.nih.gov/gene/151246) | | Ensembl ID | ENSG00000171824 | | UniProt ID | [Q3L8U1](https://www.uniprot.org/uniprot/Q3L8U1) | | OMIM | 615472 | | Protein Length | 927 amino acids | | Primary Function | DNA repair, transcription-coupled repair, chromatin remodeling | | Expression | Bone marrow, brain, liver, muscle | | Associated Diseases | Cockayne syndrome-like disorder, bone marrow failure, neurodegeneration | </aside>
ERCC6L2 — ERCC Excision Repair 6-Like 2
Overview
ERCC6L2 (ERCC Excision Repair 6-Like 2) is a DNA repair gene located on chromosome 9q34.3 that encodes a protein with homology to ERCC6 (CSB), a key protein involved in transcription-coupled nucleotide excision repair (TC-NER). The protein contains a SNF2 family ATPase domain and participates in DNA repair, transcription-coupled repair, chromatin remodeling, and mitochondrial function[@ercc6l2_overview][@ercc6l2_uniprot].
Biallelic mutations in ERCC6L2 cause a spectrum of disorders including a Cockayne syndrome-like disorder characterized by neurological regression, growth failure, and photosensitivity, as well as bone marrow failure syndromes including aplastic anemia and myelodysplastic syndrome. The role of ERCC6L2 in neuronal survival and mitochondrial function makes it relevant to neurodegenerative disease research[@tummala2014][@zhang2015].
Gene Structure and Protein Architecture
Gene Organization
The ERCC6L2 gene spans approximately 20 kb and consists of 22 exons encoding a 927-amino acid protein with a molecular weight of approximately 105 kDa. The gene is evolutionarily conserved across vertebrates.
Protein Domains
Mermaid diagram (expand to render)
N-terminal Domain: Chromatin interaction motifs
SNF2 ATPase Domain (aa 400-700): Helicase activity for chromatin remodeling
Helicase Domain: DNA strand separation activity
C-terminal Region: Regulatory sequences and protein interaction motifs