Rabbit anti-Human AIPL1 Polyclonal Antibody | anti-AIPL1 antibody

AIPL1 Antibody - middle region

Cat. Num. AAA3221731

• Gene Names: AIPL1; LCA4; AIPL2
• Reactivity: Human
• Applications: Western Blot
• Purity: Affinity purified
• Synonyms: AIPL1; Polyclonal Antibody; AIPL1 Antibody - middle region; anti-AIPL1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Purity/Purification: Affinity purified
• Form/Format: Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
• Sequence: Synthetic peptide located within the following region: RSLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDELQKEPQPLVFVI
• Sequence Length: 324

• Applicable Applications for anti-AIPL1 antibody: Western Blot (WB)
• Immunogen: The immunogen is a synthetic peptide directed towards the middle region of human AIPL1
• Preparation and Storage: For short term use, store at 2-8 degree C up to 1 week. For long term storage, store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Western Blot (WB)

(Host: RabbitTarget Name: AIPL1Sample Tissue: Human 293T Whole Cell lysatesAntibody Dilution: 1ug/ml)

Related Product Information for anti-AIPL1 antibody

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 identified 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.

Product Categories/Family for anti-AIPL1 antibody

Polyclonal; Cell Biology; Disease Related

NCBI and Uniprot Product Information

• NCBI GI #: 74272278
• NCBI GeneID: 23746
• NCBI Accession #: NP_001028226.1
• NCBI GenBank Nucleotide #: NM_001033054.2
• UniProt Accession #: Q9NZN9
• Molecular Weight: 35 kDa
• NCBI Official Full Name: aryl-hydrocarbon-interacting protein-like 1 isoform 2
• NCBI Official Synonym Full Names: aryl hydrocarbon receptor interacting protein like 1
• NCBI Official Symbol: AIPL1
• NCBI Official Synonym Symbols: LCA4; AIPL2
• NCBI Protein Information: aryl-hydrocarbon-interacting protein-like 1
• UniProt Protein Name: Aryl-hydrocarbon-interacting protein-like 1
• Protein Family: Aryl-hydrocarbon-interacting protein
• UniProt Gene Name: AIPL1
• UniProt Synonym Gene Names: AIPL2
• UniProt Entry Name: AIPL1_HUMAN

NCBI Description

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]

Uniprot Description

AIPL1: May be important in protein trafficking and/or protein folding and stabilization. Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Chaperone; Apoptosis

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: photoreceptor inner segment; cytoplasm; nucleus

Molecular Function: farnesylated protein binding; protein binding; unfolded protein binding

Biological Process: phototransduction, visible light; retinal homeostasis; protein farnesylation; protein folding; visual perception; regulation of cGMP metabolic process; negative regulation of apoptosis

Disease: Leber Congenital Amaurosis 4; Retinitis Pigmentosa