基因名称(Gene Name)
APTX AXA1
蛋白名称
Aprataxin (EC 3.-.-.-) (Forkhead-associated domain histidine triad-like protein) (FHA-HIT)
免疫原
Synthesized peptide derived from human protein . at AA range: 11-60
特异性
APTX Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
Vitamin K-dependent protein Z
背景
aprataxin(APTX) Homo sapiens This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010],
功能
disease:Defects in APTX are a cause of coenzyme Q10 deficiency [MIM:607426]. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations. It can be associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction and an ataxic form with cerebellar atrophy. Coenzyme Q10 deficiency due to APTX mutations is typically associated with cerebellar ataxia.,disease:Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]. AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.,domain:The C2H2-type zinc finger mediates DNA-binding.,domain:The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.,domain:The histidine triad, als
