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Immunogen sequence: MATLPAEPSA GPAAGGEAVA AAAATEEEEE EARQLLQTLQ AAEGEAAAAA GAGAGAAAAG AEGPGSPGVP GSPPEAASEP PTGLRFSPEQ VACVCEALLQ AGHAGRLSRF LGALPPAERL RGSDPVLRAR ALVAFQRGEY AELYRLLESR PFPAAHHAFL QDLYLRARYH; Positive Samples: Mouse eye, Rat eye; Cellular Location: Cytoplasm, Nucleus
Six5 (homeobox protein SIX5), also known as SIX5, BOR2 or DMAHP (DM locus-associated homeodomain protein), is a transcription factor that is expressed in various structures of the adult eye. Localized to the cytoplasm in early development and to the nucleus in the later stages of development, Six5 is involved in regulation of organogenesis and in maintenance of retinal formation. Six5 is able to bind the 5'-TCA[AG][AG]TTNC-3' DNA sequence found in the myogenin and IGFBP5 promoters and, through this binding, can control transcription of the associated mRNA. Six5 is regulated via association with DACH1 (dachshund homolog 1) and is co-activated by the EYA (eyes absent) proteins. Defects in the gene encoding Six5 are the cause of branchiooto- renal syndrome type 2 (BOR2), an autosomal disorder characterized by hearing loss, a deep overbite and myopia. Two isoforms exist due to alternative splicing events.
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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: DM locus-associated homeodomain protein homolog; Homeobox protein SIX5; Sine oculis homeobox homolog 5; sine oculis-related homeobox 5 homolog
基因别名: Dmahp; MDMAHP; Six5; TrexBF
UniProt ID: (Mouse) P70178
Entrez Gene ID: (Rat) 308406, (Mouse) 20475