其他名称： SIX1; Homeobox protein SIX1; Sine oculis homeobox homolog 1
实测条带： 33kD
功能： disease:Defects in SIX1 are the cause of autosomal dominant deafness type 23 (DFNA23) [MIM:605192].,disease:Defects in SIX1 are the cause of branchiootic syndrome type 3 (BOS3) [MIM:608389]. Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder of kidney and urinary tract malformations with hearing loss. The major feature of BOR is hearing loss (93% of patients), which can be conductive, sensorineural, or both and varies in age of onset.,function:May be involved in limb tendon and ligament development.,similarity:Belongs to the SIX/Sine oculis homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Specifically expressed in skeletal muscle.,
其他名称： SIX1; Homeobox protein SIX1; Sine oculis homeobox homolog 1
实测条带： 33kD
功能： disease:Defects in SIX1 are the cause of autosomal dominant deafness type 23 (DFNA23) [MIM:605192].,disease:Defects in SIX1 are the cause of branchiootic syndrome type 3 (BOS3) [MIM:608389]. Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder of kidney and urinary tract malformations with hearing loss. The major feature of BOR is hearing loss (93% of patients), which can be conductive, sensorineural, or both and varies in age of onset.,function:May be involved in limb tendon and ligament development.,similarity:Belongs to the SIX/Sine oculis homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Specifically expressed in skeletal muscle.,
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