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Mouse Anti-FIG4 Recombinant Antibody (S202-7) (CBMAB-AP2282LY)


See all FIG4 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
S202-7
Antibody Isotype
IgG1
Application
ICC/IF, IHC, WB

Basic Information

Immunogen
Fusion protein amino acids 688-907 (C-terminus) of mouse Sac3
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
FIG4 Phosphoinositide 5-Phosphatase
Introduction
The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
Entrez Gene ID
Human9896
Mouse103199
Rat309855
UniProt ID
HumanQ92562
MouseQ91WF7
RatQ0Z843
Alternative Names
FIG4 Phosphoinositide 5-Phosphatase; KIAA0274; Phosphatidylinositol 3,5-Bisphosphate 5-Phosphatase; SAC Domain-Containing Protein 3; SAC3; FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S. Cerevisiae); FIG4 Homolog, SAC1 Domain Containing Lipid Phosphatase; FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing; FIG4 Homolog, SAC Domain Containing Lipid Phosphatase; Sac Domain-Containing Inositol Phosphatase 3; Polyphosphoinositide Phosphatase;
Function
Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:17556371, PubMed:33098764).

Catalyzes the dephosphorylation of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) to form phosphatidylinositol 3-phosphate (PubMed:33098764).

Has serine-protein phosphatase activity acting on PIKfyve to stimulate its lipid kinase activity, its catalytically activity being required for maximal PI(3,5)P2 production (PubMed:33098764).

In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide and although displaying preferences for PtdIns(3,5)P2, it is capable of hydrolyzing PtdIns(3,4,5)P3 and PtdIns(4,5)P2, at least in vitro (PubMed:17556371).
Biological Process
Locomotory behavior Source: Ensembl
Myelin assembly Source: Ensembl
Negative regulation of myelination Source: Ensembl
Neuron development Source: Ensembl
Phosphatidylinositol biosynthetic process Source: Reactome
Phosphatidylinositol dephosphorylation Source: InterPro
Pigmentation Source: Ensembl
Positive regulation of neuron projection development Source: Ensembl
Vacuole organization Source: Ensembl
Cellular Location
Endosome membrane. Localization requires VAC14 and PIKFYVE.
Involvement in disease
Charcot-Marie-Tooth disease 4J (CMT4J):
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating 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. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
Amyotrophic lateral sclerosis 11 (ALS11):
A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Yunis-Varon syndrome (YVS):
A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy.
Polymicrogyria, bilateral temporooccipital (BTOP):
A disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy.
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For research use only. Not intended for any clinical use.

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We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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