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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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