ⓘ DIAPH1

                                     

ⓘ DIAPH1

This gene is a homolog of the Drosophila diaphanous gene and belongs to the protein family of the formins, characterized by the formin homology 2 FH2 domain. It has been linked to autosomal dominant, fully penetrant, nonsyndromic low-frequency progressive sensorineural 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.

                                     
  • diaphanous, a Rho effector protein involved in cytoskeletal polymerisation see DIAPH1 Men s Division of Intercollegiate Associates, now called the Men s Collegiate
  • Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH 2 gene. This gene may play a role in the development and normal function
  • mDia 1 also known as Dia 1 Drf 1 for Diaphanous - related formin - 1 Diaph1 KIAA4062, p140mDia, mKIAA4062, or D18Wsu154e is a member of the protein family
  • USH 1 C, and WFS 1 genes cause nonsyndromic deafness, with weaker evidence currently implicating genes CCDC50, DIAPH1 DSPP, ESRRB, GJB3, GRHL2, GRXCR 1 HGF
  • them, ROCK 1 Rho - associated, coiled - coil containing protein kinase 1 and DIAPH1 Diaphanous Homologue 1 a.k.a. hDia 1 homologue to mDia 1 in mouse, diaphanous
  • 2007 Up - regulation of myometrial RHO effector proteins PKN 1 and DIAPH1 and CPI - 17 PPP 1 R14A phosphorylation in human pregnancy is associated with increased
  • interactions with FAM63A: GSPT2, NAA38, RNMT, CSNIK 1 G2, ACOX 1 PSMC 1 SLC25A37, MMS19, DIAPH1 ME 1 GAPDH, UBC. After performing a yeast two - hybrid screen
  • function of the cytoskeleton. RhoD has been shown to interact with CNKSR 1 and DIAPH 2. GRCh38: Ensembl release 89: ENSG00000173156 - Ensembl, May 2017 GRCm38:
  • alpha - type - platelet derived growth factor receptor gene with the FIP 1 L 1 gene see FIP 1 L 1 - PDGFRA fusion gene. The most common of these rare mutations is the