其他名称： ATPAF2; ATP12; LP3663; ATP synthase mitochondrial F1 complex assembly factor 2; ATP12 homolog
实测条带： 35kD
功能： disease:Defects in ATPAF2 are the cause of complex V mitochondrial respiratory chain ATPAF2 subunit deficiency (ATPAF2 deficiency) [MIM:604273]; also called ATP synthase deficiency or ATPase deficiency. ATPAF2 deficiency seems to be an early presenting disease in which lactic acidosis, dysmorphic features, and methyl glutaconic aciduria can be major clues in the diagnosis. Dysmorphic features include a large mouth, prominent nasal bridge, micrognathia, rocker-bottom feet and flexion contractures of the limbs associated with camptodactyly. Patients are hypertonic and have an enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebro spinal fluid (CSF).,function:May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).,similarity:Belongs to the ATP12 family.,subunit:Interacts with ATP5A1.,tissue specificity:Widely expressed.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion .
组织表达： Widely expressed.
科研货号： PLA014849
ATPAF2 Polyclonal Antibody
Catalog NoPLA014849
Product information
基因名称： ATPAF2
蛋白名称： ATP synthase mitochondrial F1 complex assembly factor 2
其他名称： ATPAF2; ATP12; LP3663; ATP synthase mitochondrial F1 complex assembly factor 2; ATP12 homolog
实测条带： 35kD
功能： disease:Defects in ATPAF2 are the cause of complex V mitochondrial respiratory chain ATPAF2 subunit deficiency (ATPAF2 deficiency) [MIM:604273]; also called ATP synthase deficiency or ATPase deficiency. ATPAF2 deficiency seems to be an early presenting disease in which lactic acidosis, dysmorphic features, and methyl glutaconic aciduria can be major clues in the diagnosis. Dysmorphic features include a large mouth, prominent nasal bridge, micrognathia, rocker-bottom feet and flexion contractures of the limbs associated with camptodactyly. Patients are hypertonic and have an enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebro spinal fluid (CSF).,function:May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).,similarity:Belongs to the ATP12 family.,subunit:Interacts with ATP5A1.,tissue specificity:Widely expressed.,
在线咨询
湘公网安备