Recombinant Human Pseudokinase FAM20A (FAM20A)

中文名稱：

人FAM20A重組蛋白
貨號：

CSB-YP850394HU
說明書：

MSDS Datasheet
規格：

￥1500
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

FAM20A
Uniprot No.：

Q96MK3
別名：

FAM20A; UNQ9388/PRO34279Pseudokinase FAM20A
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
來源：

Yeast
分子量：

59.6kDa
表達區域：

34-541aa
氨基酸序列

QLRPRERPRGCPCTGRASSLARDSAAAASDPGTIVHNFSRTEPRTEPAGGSHSGSSSKLQALFAHPLYNVPEEPPLLGAEDSLLASQEALRYYRRKVARWNRRHKMYREQMNLTSLDPPLQLRLEASWVQFHLGINRHGLYSRSSPVVSKLLQDMRHFPTISADYSQDEKALLGACDCTQIVKPSGVHLKLVLRFSDFGKAMFKPMRQQRDEETPVDFFYFIDFQRHNAEIAAFHLDRILDFRRVPPTVGRIVNVTKEILEVTKNEILQSVFFVSPASNVCFFAKCPYMCKTEYAVCGNPHLLEGSLSAFLPSLNLAPRLSVPNPWIRSYTLAGKEEWEVNPLYCDTVKQIYPYNNSQRLLNVIDMAIFDFLIGNMDRHHYEMFTKFGDDGFLIHLDNARGFGRHSHDEISILSPLSQCCMIKKKTLLHLQLLAQADYRLSDVMRESLLEDQLSPVLTEPHLLALDRRLQTILRTVEGCIVAHGQQSVIVDGPVEQLAPDSGQANLTS
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 6xHis-tagged
產品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
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：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals.
基因功能參考文獻：
1. three patients with homozygous or compound heterozygous mutations in FAM20A and findings that extend the phenotypic spectrum of this disorder, showing that protein truncation is associated with greater clinical severity. PMID: 28298625
2. Fam20A potentiates Fam20C kinase activity and promotes the phosphorylation of enamel matrix proteins in vitro. PMID: 25789606
3. our findings support the suggestion that enamel-renal and AIGFSs are actually the same entity with different manifestations, associated with FAM20A mutations. PMID: 24259279
4. the first duplication in FAM20A and the fifth independent mutation associated with gingival hyperplasia and dental anomalies, is reported. PMID: 23697977
5. study identified 3 novel FAM20A mutations that caused autosomal-recessive amelogenesis imperfecta with delayed and arrested tooth eruption; conclude that FAM20A is likely a secretory pathway kinase and that loss-of-function mutations cause pathology where its phosphorylations are necessary for normal development or homeostasis PMID: 24196488
6. Data indicate that autosomal recessive FAM20A mutations causes nephrocalcinosis and amelogenesis imperfecta. PMID: 23434854
7. we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes. PMID: 23468644
8. Myocardial infarction is distinguished by the up-regulation of SOCS3 and FAM20A genes within first days in the vast majority of patients. PMID: 23185530
9. Three homozygous mutations in three families, and a compound heterozygous mutation in one family with hypoplastic amelogenesis imperfecta have been identified in FAM20A. PMID: 21990045
10. We identified a homozygous nonsense mutation in exon 2 of FAM20A that was not present in the Single Nucleotide Polymorphism database (dbSNP), the 1000 Genomes database, or the Centre d'Etude du Polymorphisme Humain (CEPH) Diversity Panel. PMID: 21549343
11. A homozygous nonsense mutation in exon 2 of FAM20A underlies Amelogenesis imperfecta (AI) -- disorders of biomineralization resulting from failure of normal enamel formation. PMID: 21549343
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相關疾病：

Amelogenesis imperfecta 1G (AI1G)
亞細胞定位：

Secreted. Golgi apparatus. Endoplasmic reticulum.
蛋白家族：

FAM20 family
組織特異性：

Highly expressed in lung and liver. Intermediate levels in thymus and ovary.
數據庫鏈接：

HGNC: 23015

OMIM: 204690

KEGG: hsa:54757

STRING: 9606.ENSP00000468308

UniGene: Hs.268874