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Chromosome 21 Open Reading Frame 2 Proteins (C21orf2)

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. Additionally we are shipping C21orf2 Antibodies (19) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
C21orf2 755 O43822
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Top C21orf2 Proteins at antibodies-online.com

Showing 2 out of 3 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
HOST_Wheat germ Human GST tag 10 μg Log in to see 9 Days
$405.71
Details

C21orf2 Proteins by Origin and Source

Origin Expressed in Conjugate
Human ,
,

More Proteins for Chromosome 21 Open Reading Frame 2 (C21orf2) Interaction Partners

Human Chromosome 21 Open Reading Frame 2 (C21orf2) interaction partners

  1. Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation

  2. C21ORF2 functions in the same pathway as NEK1 (show NEK1 Proteins) in DNA damage repair.

  3. This retinal dystrophy (show MERTK Proteins) 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.

  4. 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.

C21orf2 Protein Profile

Protein Summary

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients.

Gene names and symbols associated with C21orf2

  • chromosome 21 open reading frame 2 (c21orf2)
  • chromosome 21 open reading frame 2 (C21orf2)
  • MGC75902 protein
  • YF5/A2 protein

Protein level used designations for C21orf2

hypothetical protein LOC394810 , hypothetical protein LOC424866 , nuclear encoded mitochondrial protein C21orf2

GENE ID SPECIES
447342 Xenopus laevis
394810 Xenopus (Silurana) tropicalis
424866 Gallus gallus
755 Homo sapiens
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