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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: E3 SUMO-protein ligase NSE2; E3 SUMO-protein transferase NSE2; FLJ32440; hMMS21; methyl methanesulfonate sensitivity gene 21; MMS21 homolog; Non-SMC element 2 homolog; non-SMC element 2, MMS21 homolog; Non-structural maintenance of chromosomes element 2 homolog; zinc finger, MIZ-type containing 7
基因别名: C8orf36; MMS21; NSE2; NSMCE2; ZMIZ7
UniProt ID: (Human) Q96MF7
Entrez Gene ID: (Human) 286053