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Immunogen sequence: KRELATGRK AMQRLAKKMS GWFLRRTKTL IKDQLPKKED RMVYCSLTDF QKAVYQTVLE TEDVTLILQS SEPCTCRSGQ KRRNCCYKTN SHGETVKTLY LSYLTVLQKV ANHVALLQAA STSKQQETLI KRICDQVFSR FPDFVQKSKD AAFETLSDPK YSGKMKVLQQ LLNHCRKNRD KVLLFSFSTK LLDVLQQYCM ASGLDYRRLD GSTKSEERLK IVKEFNSTQD VNICLVSTMA GGLGLNFVGA NVVVLFDPTW NPANDLQAID RAYRIGQCRD VKVLRLISLG TVEEIMYLRQ IYKQQLHCVV VGSENAKRYF EAVQGSKEHQ GELFGIHNLF KFRSQGSCLT KDILEV (358-712 aa encoded by BC140702)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DNA excision repair protein ERCC-6-like 2; DNA repair and recombination protein RAD26-like; excision repair cross-complementation group 6 like 2; excision repair cross-complementation group 6-like 2; excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2; putative repair and recombination helicase RAD26L; stretch responsive protein 278
Gene Aliases: BMFS2; C9orf102; ERCC6L2; RAD26L; SR278
UniProt ID: (Human) Q5T890
Entrez Gene ID: (Human) 375748
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