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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Peptide sequence: KFLALQSKNS DADFQNNEKF VQFKQQLKEL KKQCGLQADR EADGTEGVDE
Sequence homology: Cow: 86%; Guinea Pig: 86%; Horse: 100%; Human: 100%; Mouse: 79%; Rabbit: 100%
This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a small subunit. This protein functions in nucleotide-excision repair. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: E3 SUMO-protein ligase NSE2; E3 SUMO-protein transferase NSE2; FLJ32440; hMMS21; MMS21 homolog; Non-SMC element 2 homolog; Non-structural maintenance of chromosomes element 2 homolog
Gene Aliases: C8orf36; MMS21; NSMCE2
Entrez Gene ID: (Human) 286053
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