功能： disease:Defects in BFSP1 are the cause of autosomal recessive cortical juvenile-onset cataract [MIM:611391]. Cataract is the most frequent cause of visual impairment and blindness worldwide. While congenital cataracts are less frequent than age related cataracts, if not treated promptly they can result in irreversible neural blindness. The frequency of non-syndromic congenital cataract is estimated to be 1-6 cases per 10'000 children with one additional case being diagnosed during childhood. Developmental or juvenile onset cataract is distinguished from congenital cataract by initial clarity of the lens at birth and development of opacities progressively with maturation during childhood or adolescence. Approximately 25% of non-syndromic cataracts are inherited, and they are phenotypically and genetically heterogeneous, with autosomal dominant generally considered to be more common than autosomal recessive and X-linked inheritance.,similarity:Belongs to the intermediate filament family.,subcellular location:Membrane- and cytoskeleton-associated.,subunit:Associates with BFSP2.,tissue specificity:Lens.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasm . Cytoplasm, cytoskeleton . Cytoplasm, cell cortex .
组织表达： Expressed in the cortex and nucleus of the retina lens (at protein level).
功能： disease:Defects in BFSP1 are the cause of autosomal recessive cortical juvenile-onset cataract [MIM:611391]. Cataract is the most frequent cause of visual impairment and blindness worldwide. While congenital cataracts are less frequent than age related cataracts, if not treated promptly they can result in irreversible neural blindness. The frequency of non-syndromic congenital cataract is estimated to be 1-6 cases per 10'000 children with one additional case being diagnosed during childhood. Developmental or juvenile onset cataract is distinguished from congenital cataract by initial clarity of the lens at birth and development of opacities progressively with maturation during childhood or adolescence. Approximately 25% of non-syndromic cataracts are inherited, and they are phenotypically and genetically heterogeneous, with autosomal dominant generally considered to be more common than autosomal recessive and X-linked inheritance.,similarity:Belongs to the intermediate filament family.,subcellular location:Membrane- and cytoskeleton-associated.,subunit:Associates with BFSP2.,tissue specificity:Lens.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasm . Cytoplasm, cytoskeleton . Cytoplasm, cell cortex .
组织表达： Expressed in the cortex and nucleus of the retina lens (at protein level).
在线咨询
湘公网安备