其他名称: ACAD11; Acyl-CoA dehydrogenase family member 11; ACAD-11
实测条带: 87kD
功能: alternative products:Additional isoforms seem to exist,disease:Defects in NPHP3 are a cause of renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]. RHPD is an autosomal recessive disorder with variable expression, and patients surviving the neonatal period progress to renal and hepatic failure which can be treated successfully with combined liver-kidney transplantation.,disease:Defects in NPHP3 are the cause of nephronophthisis type 3 (NPHP3) [MIM:604387]; also known as adolescent nephronophthisis. NPHP3 is a autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilatation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.,function:May participate in mechanosensation in the primary cilium of kidney cells.,similarity:Belongs to the acyl-CoA dehydrogenase family.,similarity:Contains 11 TPR repeats.,subunit:Interacts with NPHP1.,tissue specificity:Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Peroxisome . Mitochondrion membrane . Has been detected associated with mitochondrial membrane, but no matrix, in kidney and cerebellum, as well as in a neuroblastoma cell line, but not in skin fibroblasts, where it is observed in cytoplasmic vesicles (PubMed:21237683). No mitochondrial targeting signals could be predicted for any known isoform, including a putative isoform starting at Met-316. .
组织表达: Widely expressed with highest levels in brain followed by liver, heart and kidney.
其他名称: ACAD11; Acyl-CoA dehydrogenase family member 11; ACAD-11
实测条带: 87kD
功能: alternative products:Additional isoforms seem to exist,disease:Defects in NPHP3 are a cause of renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]. RHPD is an autosomal recessive disorder with variable expression, and patients surviving the neonatal period progress to renal and hepatic failure which can be treated successfully with combined liver-kidney transplantation.,disease:Defects in NPHP3 are the cause of nephronophthisis type 3 (NPHP3) [MIM:604387]; also known as adolescent nephronophthisis. NPHP3 is a autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilatation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.,function:May participate in mechanosensation in the primary cilium of kidney cells.,similarity:Belongs to the acyl-CoA dehydrogenase family.,similarity:Contains 11 TPR repeats.,subunit:Interacts with NPHP1.,tissue specificity:Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Peroxisome . Mitochondrion membrane . Has been detected associated with mitochondrial membrane, but no matrix, in kidney and cerebellum, as well as in a neuroblastoma cell line, but not in skin fibroblasts, where it is observed in cytoplasmic vesicles (PubMed:21237683). No mitochondrial targeting signals could be predicted for any known isoform, including a putative isoform starting at Met-316. .
组织表达: Widely expressed with highest levels in brain followed by liver, heart and kidney.