名称：CHCHD5

别名：MIC14; C2orf9

描述

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, Alström 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.

Specification

Swissprot：Q9BSY4

Gene Accession：BC004498

WB Predicted band size：12 kDa

Host/Isotype：Rabbit IgG

Antibody Type：Primary antibody

Storage：Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.

Species Reactivity：Human, Mouse

免疫原：Full length fusion protein

Formulation：Purified antibody in PBS with 0.05% sodium azide and 50% glycerol.

Application

Application：WB,IHC

WB：1/200-1/1000

IHC：1/20-1/100

ELISA：1/5000-1/10000

宿主：Rabbit