CHCHD5 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC, WB
Recommend Dilution	WB: 200-1000 WB positive control: A172 and 231 cell lysates IHC: 20-100 Positive control: Human gastric cancer Predicted cell location: Cytoplasm
Reactivity	Human, Mouse
Host	Rabbit
Clonality	Polyclonal
Immunogen	Full length fusion protein
Formulation	pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C.
Predicted Protein Size	12 kDa
Gene Name	coiled-coil-helix-coiled-coil-helix domain containing 5
Database Link	Entrez Gene 84269 Human UniProt ID Q9BSY4
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, 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.
Synonyms	C2orf9; FLJ39671; MGC11104
Reference Data

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