anti-Aryl Hydrocarbon Receptor Interacting Protein-Like 1 Antikörper

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit AIPL1

• aryl hydrocarbon receptor interacting protein like 1 (AIPL1) Antikörper
• aryl hydrocarbon receptor interacting protein like 1 (aipl1) Antikörper
• aryl hydrocarbon receptor-interacting protein-like 1 (Aipl1) Antikörper

• A930007I01Rik Antikörper
• AIPL1 Antikörper
• AIPL2 Antikörper
• LCA4 Antikörper

Bezeichner auf Proteinebene für AIPL1

aryl hydrocarbon receptor interacting protein-like 1 , aryl-hydrocarbon-interacting protein-like 1 , aryl-hydrocarbon interacting protein-like 1