Recombinant Human Nuclear protein AMMECR1 (AMMECR1)

貨號：

CSB-YP2255HU
規格：
來源：

Yeast
其他：

貨號：

CSB-EP2255HU
規格：
來源：

E.coli
其他：

貨號：

CSB-EP2255HU-B
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

貨號：

CSB-BP2255HU
規格：
來源：

Baculovirus
其他：

貨號：

CSB-MP2255HU
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

AMMECR1
Uniprot No.：

Q9Y4X0
別名：

Nuclear protein AMMECR1; AMME syndrome candidate gene 1 protein; AMMECR1
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length
表達區域：

1-333
氨基酸序列

MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLTGGGSGSGCTLSPPQGCGGGGGGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPGSRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPLFVTWKIGRDKRLRGCIGTFSAMNLHSGLREYTLTSALKDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIRIEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSEKMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

基因功能參考文獻：
1. We conclude that AMMECR1 is a critical gene in the pathogenesis of Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME), causing midface hypoplasia and elliptocytosis and contributing to early speech and language delay, infantile hypotonia and hearing loss PMID: 27811305
2. Study provides further evidence that mutated AMMECR1 gene is responsible for this clinically recognizable X-linked condition, Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex) with variable expressivity. PMID: 28089922
3. PH0010 from Pyrococcus horikoshii is highly homologous to human AMMECR 1C-terminal region PMID: 15558565
相關疾病：

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN); Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR)
亞細胞定位：

Nucleus.
數據庫鏈接：

HGNC: 467

OMIM: 300194

KEGG: hsa:9949

STRING: 9606.ENSP00000262844

UniGene: Hs.656243