Product info:

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.

Alternative names:

AIPL1; AIPL2; LCA4

Species reactivity:

Human, Mouse, Rat

Host:

Rabbit

Cellular localisation:

Cytoplasm, Nucleus

Isotype:

IgG

Immunogen:

Recombinant fusion protein containing a sequence corresponding to amino acids 1-384 of human AIPL1 (NP_055151.3).

Positive control:

U-937, Mouse liver, Mouse heart, Rat liver, Rat brain

AA Sequence:

MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMHIIIGNMFKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDELQKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPWEVQWLKLEKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEAEAKADLQKVLELEPSMQKAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEPPAEPPTAPSAELSAGPPAEPATEPPPSPGHSLQH

Purification:

Affinity purification

Molecular weight:

Calculated MW: 36kDa/40kDa/41kDa/43kDa Observed MW: 40-55kDa

Form:

Liquid

Applications:

Request info at info@sobekbio.com

Dilution:

WB 1:500 - 1:2000 IF 1:50 - 1:200

Storage buffer:

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Storage:

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

More info:

Email: info@sobekbio.com

Orders:

Email: orders@sobekbio.com