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Invitrogen
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Immunogen sequence: STQPVDELEG RYFQVEVEKR MVPSAAASQN PESEKRNTCV LREQIVAQYP SLKRESEKII ENFKKKMKVK NGETLFELHR TTFGKVTKNS SSIKVVKLLV RLSDS
Highest antigen sequence identity to the following orthologs: Mouse - 48%, Rat - 44%.
With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and isconsidered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene isimportant for regulation ofcellcycle arrest and apoptosisfollowing double strand DNA breaks. Atmmutation leadsto the disorderknown as ataxia telangiectasia. The blood disorders Sickle cell anemia and β thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitzsyndrome are also associatedwith defectsin chromosome 11. The FAM111A gene product has been provisionally designated FAM111A pending furthercharacterization.
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: family with sequence similarity 111, member A; Serine protease FAM111A
基因别名: FAM111A; GCLEB; KCS2; KIAA1895
UniProt ID: (Human) Q6IPR7
Entrez Gene ID: (Human) 63901