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Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. Zusätzlich bieten wir Ihnen C21orf2 Antikörper (18) und viele weitere Produktgruppen zu diesem Protein an.
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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.
Mutation in C21ORF2 gene is associated with amyotrophic lateral sclerosis.
reduced levels of functional C21orf2 induced photoreceptor degradation through abnormal cilia formation, leading to arRP or arCRD in the retina.
Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation
C21ORF2 functions in the same pathway as NEK1 (zeige NEK1 Proteine) in DNA damage repair.
This retinal dystrophy (zeige MERTK Proteine) 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.
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.
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.
hypothetical protein LOC394810
, hypothetical protein LOC424866
, nuclear encoded mitochondrial protein C21orf2