AIPL1 antibody (clone 10), anti-human

AIPL1 antibody (clone 10), anti-human

€435.00
In stock
SKU
AC-AT1078a
Catalog Number: AC-AT1078a
Size: 100 µg
Isotype: mouse IgG2a Kappa
Applications: WB, IHC, IF, E
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Background:
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.

Other Names:
Aryl-hydrocarbon-interacting protein-like 1, AIPL1, AIPL2

Antigen Type:
Recombinant Protein

Gene Name: AIPL1
Gene ID: 23746
NCBI Accession: NP_001028226.1;NP_001028227.1;NP_055151.3
Primary Accession: Q9NZN9
Other Accession: BC012055
Format: Clear, colorless solution in phosphate buffered saline, pH 7.2 .
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