功能： disease:Defects in RECQL4 are a cause of Baller-Gerold syndrome (BGS) [MIM:218600]; also known as craniosynostosis with radial defects. BGS is an autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. BGS is part of the clinical spectrum of Rothmund-Thomson and RAPADILINO syndromes.,disease:Defects in RECQL4 are a cause of RAPADILINO syndrome [MIM:266280]. A disease characterized by radial and patellar aplasia or hypoplasia.,disease:Defects in RECQL4 are a cause of Rothmund-Thomson syndrome (RTS) [MIM:268400]. A disease characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.,function:DNA-dependent ATPase. May modulate chromosome segregation.,induction:Up-regulated in actively dividing cells.,similarity:Belongs to the helicase family. RecQ subfamily.,similarity:Contains 1 helicase ATP-binding domain.,similarity:Contains 1 helicase C-terminal domain.,subunit:Interacts with UBR1 and UBR2.,tissue specificity:Ubiquitously expressed, with highest levels in thymus and testis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus .
组织表达： Ubiquitously expressed, with highest levels in thymus and testis.
科研货号： PLA006346
RECQ4 Polyclonal Antibody
Catalog NoPLA006346
Product information
基因名称： RECQL4 RECQ4
蛋白名称： ATP-dependent DNA helicase Q4 (EC 3.6.4.12) (DNA helicase, RecQ-like type 4) (RecQ4) (RTS) (RecQ protein-like 4)
功能： disease:Defects in RECQL4 are a cause of Baller-Gerold syndrome (BGS) [MIM:218600]; also known as craniosynostosis with radial defects. BGS is an autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. BGS is part of the clinical spectrum of Rothmund-Thomson and RAPADILINO syndromes.,disease:Defects in RECQL4 are a cause of RAPADILINO syndrome [MIM:266280]. A disease characterized by radial and patellar aplasia or hypoplasia.,disease:Defects in RECQL4 are a cause of Rothmund-Thomson syndrome (RTS) [MIM:268400]. A disease characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.,function:DNA-dependent ATPase. May modulate chromosome segregation.,induction:Up-regulated in actively dividing cells.,similarity:Belongs to the helicase family. RecQ subfamily.,similarity:Contains 1 helicase ATP-binding domain.,similarity:Contains 1 helicase C-terminal domain.,subunit:Interacts with UBR1 and UBR2.,tissue specificity:Ubiquitously expressed, with highest levels in thymus and testis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus .
组织表达： Ubiquitously expressed, with highest levels in thymus and testis.
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