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Invitrogen
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FIGURE: 1 / 1
Positive test controls include: U-87MG, HeLa, HepG2, A-549, Rat brain. The target is usually found in the following locations: Cell projection, Cytoplasm, cytoskeleton, filopodium.
Immunogen sequence: QMECEEEKAA TLSSDTSIQA SEPLLDTHIV NGERDETATA PASPTTDSCD GNASDSSYRT PGIGPVLPLE ERGAETETKV QERENGESPL ELEQLDQHHE
The FGD4 gene, also known as FYVE, RhoGEF, and PH domain-containing protein 4, is located on chromosome 12p11.21. This gene encodes a protein involved in the regulation of the actin cytoskeleton and is crucial for cellular processes such as migration and adhesion. FGD4 is specifically associated with Charcot-Marie-Tooth disease type 4H (CMT4H), a rare autosomal recessive hereditary neuropathy characterized by early onset, progressive distal muscle weakness, scoliosis, and myelin outfoldings. Mutations in FGD4 result in disruptions of its function, leading to the clinical manifestations of CMT4H. Additionally, the gene has been implicated in cancer biology, with its expression correlating with aggressive phenotypes in some cancers and contributing to therapeutic resistances. The gene includes multiple exons and alternative splicing variants, underlining its broad functional implications.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Actin filament-binding protein frabin; actin-filament binding protein frabin; FGD1 family, member 4; FGD1-related F-actin-binding protein; FYVE, RhoGEF and PH domain-containing protein 4; Zinc finger FYVE domain-containing protein 6
Gene Aliases: 9030023J02Rik; 9330209B17Rik; CMT4H; FGD4; FRABP; ZFYVE6
UniProt ID: (Human) Q96M96, (Rat) O88387, (Mouse) Q91ZT5
Entrez Gene ID: (Human) 121512, (Rat) 246174, (Mouse) 224014
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