Recombinant Human Uncharacterized protein C21orf2 (C21orf2)

中文名稱：

Recombinant Human Uncharacterized protein C21orf2(C21orf2)
貨號(hào)：

CSB-YP003758HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Uncharacterized protein C21orf2(C21orf2)
貨號(hào)：

CSB-EP003758HU-B
說明書：

MSDS Datasheet
規(guī)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：

Recombinant Human Uncharacterized protein C21orf2(C21orf2)
貨號(hào)：

CSB-BP003758HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Uncharacterized protein C21orf2(C21orf2)
貨號(hào)：

CSB-MP003758HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

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

產(chǎn)品詳情

純度：

>85% (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)
蛋白長度：

Full length protein of Isoform 4
表達(dá)區(qū)域：

1-375
氨基酸序列

MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSR CQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQK LDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEE ATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHG ASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGP GPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGS RLQALRGEEVQEHAE
蛋白標(biāo)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(chǎn)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(fù)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(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：

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(xiàng)：

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(chǎn)品評價(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)疾病：

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)庫鏈接：

HGNC: 1260

OMIM: 602271

KEGG: hsa:755

STRING: 9606.ENSP00000344566

UniGene: Hs.517331