PBS pH7.3, 0.02% sodium azide, 50% glycerol.
Store as concentrated solution. Centrifuge briefly prior to opening vial. For short-term storage (1-2 weeks), store at 4ºC. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.
Recombinant fusion protein containing a sequence corresponding to amino acids 1149-1263 of human DIAPH1 (NP_001073280.1).
Purified by affinity chromatography
For laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption.
diaphanous related formin 1 , DFNA1 , DIA1 , DRF1 , LFHL1 , SCBMS , hDIA1
Cell membrane,Cytoplasm, cytoskeleton,Cytoplasm,Nucleus
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. [provided by RefSeq, Jul 2008]