中文名称:CHCHD5抗原(重组蛋白)
英文名称:CHCHD5 Antigen (Recombinant Protein)
别 名:MIC14; C2orf9
储 存:冷冻(-20℃)
相关类别:抗原
概述
Full length fusion protein
技术规格
Full name:
coiled-coil-helix-coiled-coil-helix domain containing 5
Synonyms:
MIC14; C2orf9
Swissprot:
Q9BSY4
Gene Accession:
BC004498
Purity:
>85%, as determined by Coomassie blue stained SDS-PAGE
Expression system:
Escherichia coli
Tags:
His tag C-Terminus, GST tag N-Terminus
Background:
CHCHD5 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 5) is a 110 amino acid protein that contains one CHCH domain. The gene encoding CHCHD5 maps to human chromosome 2, which consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr?m syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
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