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The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E.
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: Fanconi anemia group E protein; Fanconi anemia, complementation group E; Protein FACE
基因别名: FACE; FAE; FANCE
UniProt ID: (Human) Q9HB96
Entrez Gene ID: (Human) 2178