DIAPH1
Protein and coding gene in humans
01Function
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.
02Interactions
03Clinical significance
Mutations in this gene have been associated with macrothrombocytopenia and hearing loss, microcephaly, blindness, and early onset seizures
Its actions on platelet formation appear to occur at the level of the megakaryocyte where it is involved in cytoskeleton formation.
Sources and credits
This article is adapted from the Wikipedia article “DIAPH1”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
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