AI-Edigene® ATP7B p.R778L Reference Standard Plus-100%
CBPD0047
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索取COA
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产品数据库
| Introduction | |
| Format | Genomic DNA |
| Description |
The ATP7B gene is located on the q14.3 region of chromosome 13 and consists of 21 exons, encoding a total of 1465 amino acids. This gene produces a copper-transporting ATPase involved in copper transmembrane transport, mainly expressed in the liver. Defects in the ATP7B gene lead to impaired or lost ATPase function, causing issues with copper excretion in the bile and resulting in excessive copper accumulation in the liver, brain, kidneys, bones and joints, cornea, and other tissues and organs. Patients may show liver damage, neurological and psychiatric symptoms, kidney problems, bone and joint disease, and corneal pigmentation rings (Kayser-Fleischer ring, K-F ring), a condition known as hepatolenticular degeneration, also called Wilson's disease.
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| Technical Data | |
| DNA Change | c.2333G>T |
| AA Change | p.R778L |
| Mutation type | Substitution - Missense |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | NM_000053.4 |
| Chr position(GRCh37) | chr13: 52532469 |
| Buffer | Tris-EDTA |
| Product Information | |
| Intended Use | Research Use Only |
| Unit Size | 1ug |
| Concentration | Download for COA |
| Purity | Download for COA |
| DNA electrophoresis | Download for COA |
| Sanger sequencing |  |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
