DIAPH1 (NM_001079812) Human Recombinant Protein
Product Specifications
Background
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]
Overview
Recombinant protein of human diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 2
Synonyms
DFNA1; DIA1; DRF1; hDIA1; LFHL1; SCBMS
Gene ID
1729
UniProt
O60610
Accession Number mRNA
NM_001079812
Chromosomal Location
5q31.3
Expression System
HEK293T
Tag
C-Myc/DDK
Related Pathways
Focal adhesion, Regulation of actin cytoskeleton
Field of Research
Focal adhesion, Regulation of actin cytoskeleton
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Function
Druggable Genome, Stem cell - Pluripotency
Molecular Weight
140.1 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
DIAPH1
Species
Human
Protein ID
NP_001073280
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/1729
Uniprot URL
https://www.uniprot.org/uniprot/O60610
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_001079812
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_001073280
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