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

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Code CSB-EP003758HU
MSDS
Size $554
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 85% as determined by SDS-PAGE.
Target Names
C21orf2
Uniprot No.
Research Area
Cell Biology
Alternative Names
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
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
1-375aa
Target Protein Sequence
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
40.4 kDa
Protein Length
Full Length of Isoform 4
Tag Info
Tag-Free
Form
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.
Buffer
Tris-based buffer,50% glycerol
Troubleshooting and 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
3-7 business days
Notes
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.

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Target Background

Function
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.
Gene References into Functions
  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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Involvement in disease
Retinal dystrophy with or without macular staphyloma (RDMS); Spondylometaphyseal dysplasia, axial (SMDAX)
Subcellular Location
Mitochondrion. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium, photoreceptor outer segment. Cytoplasm.
Tissue Specificity
Widely expressed. Expressed in the retina.
Database Links

HGNC: 1260

OMIM: 602271

KEGG: hsa:755

STRING: 9606.ENSP00000344566

UniGene: Hs.517331

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