Key features and details
- Mouse polyclonal to GDAP1
- Suitable for: WB
- Reacts with: Human
- Isotype: IgG
Product nameAnti-GDAP1 antibody
See all GDAP1 primary antibodies
DescriptionMouse polyclonal to GDAP1
Tested applicationsSuitable for: WBmore details
Species reactivityReacts with: Human
Predicted to work with: Mouse, Cow
- HepG2 whole cell lysate (ab7900); Recombinant GDAP1 protein (immunogen).
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Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.
Storage bufferConstituent: 50% Glycerol (glycerin, glycerine)
Concentration information loading...
Our Abpromise guarantee covers the use of ab194493 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||1/500 - 1/2500. Predicted molecular weight: 41 kDa.|
FunctionMay function in a signal transduction pathway responsible for ganglioside-induced neurite differentiation. May also have a role in protecting myelin membranes against free radical-mediated damage.
Tissue specificityHighly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells.
Involvement in diseaseDefects in GDAP1 are the cause of Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]. CMT4A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are by convention designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence.
Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease axonal recessive with vocal cord paresis (CMT2RV) [MIM:607706]. CMT2RV is a form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis.
Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease type 2K (CMT2K) [MIM:607831]. CMT2K is an axonal form of Charcot-Marie-Tooth disease. Axonal CMT neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive.
Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease recessive intermediate type A (CMTRIA) [MIM:608340]. CMTRIA is a form of Charcot-Marie-Tooth disease characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
Sequence similaritiesBelongs to the GST superfamily.
Contains 1 GST C-terminal domain.
Contains 1 GST N-terminal domain.
- Information by UniProt
- Charcot Marie Tooth neuropathy 4A antibody
- CMT4 antibody
- CMT4A antibody
ab194493 has not yet been referenced specifically in any publications.