Recombinant Human Magnesium transporter NIPA4 (NIPAL4), partial

Product Details

Purity

≥85% (SDS-PAGE)

Target Names

NIPAL4

Uniprot No.

Alternative Names

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

Species

Homo sapiens (Human)

Protein Length

Partial

Tag Info

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.

Form

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.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose.

Reconstitution

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.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

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

Shelf Life

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.

Lead Time

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.

Notes

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.

Target Background

Function

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.

Gene References into Functions

Case Report: novel NIPAL4 mutation in Japanese female with ichthyosiform erythroderma. PMID: 27868142
We have identified a novel NIPAL4 mutation in two patients from Romania with autosomal recessive congenital ichthyosis. PMID: 26456858
FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function PMID: 23290633
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
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
diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation PMID: 22098531
Observational study of gene-disease association. (HuGE Navigator) PMID: 19423540
Observational study of gene-disease association. (HuGE Navigator) PMID: 20406964
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20438785
A recurrent missense mutation, p.A176D, was identified in individuals with autosomal recessive ichthyosis. PMID: 20016120
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
mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis PMID: 17557927
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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Involvement in disease

Ichthyosis, congenital, autosomal recessive 6 (ARCI6)

Subcellular Location

Membrane; Multi-pass membrane protein.

Protein Families

NIPA family

Tissue Specificity

Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain.

Database Links

HGNC: 28018

OMIM: 609383

KEGG: hsa:348938

STRING: 9606.ENSP00000311687

UniGene: Hs.4285

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Recombinant Human Magnesium transporter NIPA4 (NIPAL4), partial

Product Details

Customer Reviews and Q&A

Target Background

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