Recombinant Human Magnesium transporter NIPA4 (NIPAL4), partial

中文名稱：

人NIPAL4重組蛋白
貨號：

CSB-YP603535HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人NIPAL4重組蛋白
貨號：

CSB-EP603535HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人NIPAL4重組蛋白
貨號：

CSB-EP603535HU-B
說明書：

MSDS Datasheet
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：

中文名稱：

人NIPAL4重組蛋白
貨號：

CSB-BP603535HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人NIPAL4重組蛋白
貨號：

CSB-MP603535HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

NIPAL4
Uniprot No.：

Q0D2K0
別名：

NIPAL4; ICHN; NIPA4; Magnesium transporter NIPA4; Ichthyin; NIPA-like protein 4; Non-imprinted in Prader-Willi/Angelman syndrome region protein 4
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
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：

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

功能：

Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway.
基因功能參考文獻：
1. Case Report: novel NIPAL4 mutation in Japanese female with ichthyosiform erythroderma. PMID: 27868142
2. We have identified a novel NIPAL4 mutation in two patients from Romania with autosomal recessive congenital ichthyosis. PMID: 26456858
3. FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function PMID: 23290633
4. Autosomal recessive congenital ichthyosis patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX and eLOX-3 staining and a colocalization signal of these lipoxygenases that was three times the normal intensity. PMID: 22622417
5. combined findings indicate that ichthyin is associated with keratins and desmosomes in epidermis and is involved in lipid metabolism, possibly through processing of lamellar bodies PMID: 22258272
6. diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation PMID: 22098531
7. Observational study of gene-disease association. (HuGE Navigator) PMID: 19423540
8. Observational study of gene-disease association. (HuGE Navigator) PMID: 20406964
9. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20438785
10. A recurrent missense mutation, p.A176D, was identified in individuals with autosomal recessive ichthyosis. PMID: 20016120
11. Six homozygous mutations including one nonsense and five missense mutations were identified in a new gene, ichthyin, on chromosome 5q33 in patients with autosomal recessive congenital ichthyosis (ichthyin). PMID: 15317751
12. mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis PMID: 17557927
13. The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis by mildly affecting the expression of retinoid- regulated genes in epidermis. PMID: 19197536
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相關疾病：

Ichthyosis, congenital, autosomal recessive 6 (ARCI6)
亞細胞定位：

Membrane; Multi-pass membrane protein.
蛋白家族：

NIPA family
組織特異性：

Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain.
數據庫鏈接：

HGNC: 28018

OMIM: 609383

KEGG: hsa:348938

STRING: 9606.ENSP00000311687

UniGene: Hs.4285