Rabbit Anti-ATP6V0A2/FITC Conjugated antibody

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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; Lysosomal H(+) transporting ATPase V0 subunit

Cat:

SL12761R-FITC

Species Reactivity：

(predicted: Human,Mouse,Rat,Dog,Pig,Cow,Horse,Sheep,)

Immunogen：

KLH conjugated synthetic peptide derived from human ATP6V0A2

Format：

Lyophilized or Liquid

Storage instructions：

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 ant

Buffer：

0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

Calculated MW：

98kDa

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Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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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. SLVATPase 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 SLVATPases. 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.

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 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 SLVATPase 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.

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