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Anti-PNPLA6 Antibody

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产品名称: Anti-PNPLA6 Antibody
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Anti-PNPLA6 Antibody


Anti-PNPLA6 Antibody  的详细介绍
Name: Anti-PNPLA6 Antibody
See all PNPLA6 primary antibodies
Description: Rabbit polyclonal antibody to PNPLA6
Specificity: The antibody detects endogenous levels of total PNPLA6 protein.
Applications: WB
Reactivity: Human
Immunogen: Synthesized peptide derived from internal of human PNPLA6.
Host: Rabbit
Clonality: Polyclonal
Conjugate: Unconjugated
Purification: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration: 1.0mg / ml
Formulation: Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Storage: Store at -20˚C
Function: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.
Tissue Specificity: Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.
Involvement in Disease: Spastic paraplegia 39, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles.

Boucher-Neuhauser syndrome: An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present.

Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

Oliver-McFarlane syndrome: A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy.
Sequence Similarities: Belongs to the NTE family.
Post-Translational Modification: Glycosylated.
Cellular Location: Endoplasmic reticulum membrane.

Anchored to the cytoplasmic face of the endoplasmic reticulum by its N-terminal transmembrane segment.
Synonyms:
  • EC 3.1.1.5 Antibody
  • Neuropathy target esterase Antibody
  • NTE Antibody
  • NTEMND Antibody
  • Patatin like phospholipase domain containing 6 Antibody
  • Patatin like phospholipase domain containing protein 6 Antibody
  • Patatin-like phospholipase domain-containing protein 6 Antibody
  • PLPL6_HUMAN Antibody
  • Pnpla6 Antibody
  • SPG39 Antibody
  • sws Antibody
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    Information: Target information shown above is from the UniProt Consortium.
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