Anti-DNAJC19抗体The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport

产品编号 yb-14385R
英文名称 Anti-DNAJC19抗体
中文名称 DNAJC19蛋白抗体
别    名 DnaJ (Hsp40) homolog, subfamily C, member 19; DnaJ homolog subfamily C member 19; DNAJC19; homolog of yeast TIM14; Mitochondrial import inner membrane translocase subunit TIM14; PAM18; TIM 14; TIM14; TIM14_HUMAN; TIMM 14; TIMM14; translocase of the inner mitochondrial membrane 14; Translocase of the inner mitochondrial membrane 14, yeast homolog of.
 Anti-DNAJC19抗体
说 明 书 0.2ml  
研究领域 心血管  细胞生物  神经生物学  信号转导  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep, 
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 12kDa
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human DNAJC19
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
 
PubMed PubMed
产品介绍 background:
The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]

Function:
Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity.

Subcellular Location:
Mitochondrion inner membrane.

Tissue Specificity:
Ubiquitously expressed.
 
DISEASE:
Defects in DNAJC19 are the cause of 3-methylglutaconic aciduria type 5 (MGA5) [MIM:610198]; also known as dilated cardiomyopathy with ataxia (DCMA). MGA5 is an autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure, and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid.