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DIAPH1
This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Cell line enhanced (HMC-1)
Interaction
Homodimer (By similarity). Interacts with the GTP-bound form of RHOA (PubMed:23325789). Interacts with RHOC, PFY1, MAPRE1, BAIAP2 and APC (By similarity). Interacts with SCAI (By similarity). Interacts with DCAF7, via FH2 domain (By similarity). Interacts with NCDN (By similarity). Interacts with OSBPL10, OSBPL2, VIM, TUBB and DYN1 (PubMed:23325789).
Molecular function
Actin-binding
More Types Infomation
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- Derivation: Phage display library
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, IHC, ICC
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- Species Reactivity: Human
- Application: WB
- Rabbit Anti-DIAPH1 Recombinant Antibody (clone JE40-59) (MRO-0477-CN)
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- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, IF, IHC
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For Research Use Only. Not For Clinical Use.