Recombinant Human Putative DNA repair and recombination protein RAD26-like (RAD26L)

Uniprot Id

Q5T890

Target Species

Human

Target Name

ERCC6L2

Target Full Name

DNA excision repair protein ERCC-6-like 2

Target Function

May be involved in early DNA damage response.

Target Involvement

Bone marrow failure syndrome 2 (BMFS2)

Target Subcellular Location

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Mitochondrion. Note=Colocalizes with NEK6 in the centrosome. In response to DNA damage, translocates from the cytosol to mitochondria and nucleus in a reactive oxygen species (ROS)-dependent manner.

Target Protein Families

SNF2/RAD54 helicase family

Target Tissue Specificity

Expressed in bone marrow (at protein level).

Target Synonyms

C9orf102; Chromosome 9 open reading frame 102; excision repair cross-complementing rodent repair deficiency; complementation group 6-like 2; FLJ37706; MGC30192; MGC43364; Putative DNA repair and recombination protein RAD26-like; putative repair and recombination helicase RAD26L; RAD26_HUMAN; Rad26l; RAD26L hypothetical protein; SR278; stretch responsive protein 278

Target Background

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.