ERCC6L2 gene

ERCC excision repair 6 like 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]

From UniProt:

May be involved in early DNA damage response.

From NCBI Gene:

  • Bone marrow failure syndrome 2

From UniProt:

Bone marrow failure syndrome 2 (BMFS2): An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features. [MIM:615715]

Cytogenetic Location: 9q22.32, which is the long (q) arm of chromosome 9 at position 22.32

Molecular Location: base pairs 95,875,618 to 96,041,092 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q22.32, which is the long (q) arm of chromosome 9 at position 22.32
  • BMFS2
  • C9orf102
  • RAD26L
  • SR278