AIPL1 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ICC/IF, WB
Recommend Dilution	WB,1:500 - 1:2000 IHC,1:50 - 1:100 IF,1:50 - 1:100
Reactivity	Human, Mouse
Modifications	Unmodified
Host	Rabbit
Clonality	Polyclonal
Immunogen	Recombinant fusion protein containing a sequence corresponding to amino acids 1-384 of human AIPL1 (NP_055151.3).
Formulation	Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20℃. Avoid freeze / thaw cycles.
Predicted Protein Size	36kDa/40kDa/41kDa/43kDa
Gene Name	aryl hydrocarbon receptor interacting protein like 1
Database Link	Entrez Gene 23746 Human UniProt ID Q9NZN9
Background	Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants.
Synonyms	AIPL2; LCA4
Reference Data

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