GTX55497
AIPL1 antibody
Cannot supply to this region.
- SKU:
- GTX55497
- Additional Names:
- aryl hydrocarbon receptor interacting protein like 1 , AIPL2 , LCA4
- Application:
- WB, IF, ICC
- Physical State:
- Liquid
- Species Reactivity:
- Human
- Purification:
- Affinity Purified
- Storage Conditions:
- -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Supplier:
- Genetex
- Host:
- Rabbit
- Reactivities:
- Human, Mouse
- Buffer:
- PBS, 50% Glycerol, 0.02% Sodium azide.
- Immunogen:
- Recombinant fusion protein containing a sequence corresponding to amino acids 1-384 of human AIPL1 (NP_055151.3).
- Uniprot:
- Q9NZN9
- Synonyms:
- AIPL2;aryl-hydrocarbon-interacting protein-like 1;LCA4
- Extra Details:
- 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. [provided by RefSeq, Jan 2014]
- Shipping Conditions:
- Blue Ice