液泡膜质子转运ATP酶2型抗体
规格：1mg/1ml
英文名： ATP6V0A2
别名： a2; A2V ATPase; ARCL; ATP6a2; ATP6N1D; ATP6V0A2; ATPase, H+ transporting, lysosomal V0 subunit a isoform 2; ATPase, H+ transporting, lysosomal V0 subunit a2; Infantile malignant osteopetrosis; J6B7; L
分子量： 98kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human ATP6V0A2
交叉反应：Human, Mouse, Rat,
液泡膜质子转运ATP酶2型抗体细胞定位：细胞膜
产品介绍：background: The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] Function: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH液泡膜质子转运ATP酶2型抗体. Subcellular Location: Cell membrane. Endosome membrane. In kidney proximal tubules, also detected in subapical vesicles. Post-translational modifications: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in ATP6V0A2 are the cause of cutis laxa autosomal recessive type 2A (ARCL2A) [MIM:219200]. An autosomal recessive disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental液泡膜质子转运ATP酶2型抗体 deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. Defects in ATP6V0A2 are a cause of wrinkly skin syndrome (WSS) [MIM:278250]. WSS is rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. Similarity: Belongs to the V-ATPase 116 kDa subunit family. Database links: Entrez Gene: 338038 Cow Entrez Gene: 23545 Human Entrez Gene: 21871 Mouse Entrez Gene: 116455 Rat Omim: 611716 Human SwissProt: O97681 Cow SwissProt: Q9Y487 Human SwissProt: P15920 Mouse Unigene: 25786 Human Unigene: 1158 Mouse Unigene: 392098 Mouse Unigene: 204067 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
液泡膜质子转运ATP酶2型抗体产品应用：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.
研究领域：肿瘤 细胞生物 信号转导 细胞分化 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid