DIAPH1
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene.[1][2][3]
Function
[edit | edit source]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.[3]
Interactions
[edit | edit source]DIAPH1 has been shown to interact with RHOA.[4]
Clinical significance
[edit | edit source]Mutations in this gene have been associated with macrothrombocytopenia and hearing loss,[5] microcephaly, blindness, and early onset seizures[6]
Its actions on platelet formation appear to occur at the level of the megakaryocyte where it is involved in cytoskeleton formation.[7]
See also
[edit | edit source]References
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Further reading
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