Recombinant Human Cilia- and flagella-associated protein 410 (CFAP410)

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中文名稱：

Recombinant Human Cilia- and flagella-associated protein 410(CFAP410)
品名簡(jiǎn)稱：

Recombinant Human C21orf2 protein
貨號(hào)：

CSB-EP003758HU
說(shuō)明書：

MSDS Datasheet
規(guī)格：

￥3324
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
基因名：

C21orf2
Uniprot No.：

O43822
別名：

A2; C21orf HUMF09G8.5; C21orf-HUMF09G8.5; C21orf2; Chromosome 21 open reading frame 2; CU002_HUMAN; Hypothetical protein LOC755; Nuclear encoded mitochondrial protein cDNA A2 YF5; Protein C21orf2; Uncharacterized protein C21orf2; YF 5; YF5; YF5/A2
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

Full Length of Isoform 4
來(lái)源：

E.coli
分子量：

40.4 kDa
表達(dá)區(qū)域：

1-375aa
氨基酸序列

MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE
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(biāo)簽：

Tag-Free
產(chǎn)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.
緩沖液：

Tris-based buffer,50% glycerol
儲(chǔ)存條件：

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

3-7 business days
注意事項(xiàng)：

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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Plays a role in cilia formation and/or maintenance. Plays a role in the regulation of cell morphology and cytoskeletal organization. Involved in DNA damage repair.
基因功能參考文獻(xiàn)：
1. Identification of a homozygous C21orf2 mutation in this case emphasizes the value of exome sequencing for simultaneously screening known genes and identifying novel genes.the severity of thoracic restriction in this case adds to the phenotypic spectrum attributable to C21orf2 mutations. PMID: 28422394
2. Mutation in C21ORF2 gene is associated with amyotrophic lateral sclerosis. PMID: 27455348
3. reduced levels of functional C21orf2 induced photoreceptor degradation through abnormal cilia formation, leading to arRP or arCRD in the retina. PMID: 27548899
4. Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation PMID: 26974433
5. C21ORF2 functions in the same pathway as NEK1 in DNA damage repair. PMID: 26290490
6. This retinal dystrophy phenotype is caused by recessive mutations in C21orf2 and can be considered a retinal ciliopathy as C21orf2 encodes a protein that localises to photoreceptor ciliary structures. PMID: 26294103
7. Downregulated protein level of C21orf2 in adult brain of patients with Down syndrome (DS) in contrast to Alzheimer's disease indicates that it can be considered specific for changes in DS. PMID: 15068244
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相關(guān)疾?。?/div>
Retinal dystrophy with or without macular staphyloma (RDMS); Spondylometaphyseal dysplasia, axial (SMDAX)
亞細(xì)胞定位：

Mitochondrion. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium, photoreceptor outer segment. Cytoplasm.
組織特異性：

Widely expressed. Expressed in the retina.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 1260

OMIM: 602271

KEGG: hsa:755

STRING: 9606.ENSP00000344566

UniGene: Hs.517331