Product Name	AIPL1
Chinese Name	遗传性失明相关蛋白AIPL1抗体
Alias	A930007I01Rik; Aipl1; AIPL1_HUMAN; AIPL2; Aryl hydrocarbon interacting protein like 1; Aryl hydrocarbon receptor interacting protein like 1; Aryl-hydrocarbon-interacting protein-like 1; LCA4; MGC25485; OTTHUMP00000128207; OTTMUSP00000006382; RP23-401C17.1.
Research Area	Cell biology  Neurobiology  Signal transduction
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Dog, Pig, Cow, Rabbit, Sheep, )
Applications	ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	44kDa
Cellular localization	The nucleus cytoplasmic
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human AIPL1: 165-260/384
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	The inherited blindness associated protein, aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), interacts with the cell cycle regulator protein NUB1. AIPL1 is crucial for protein folding and stabilization, as well as for protein trafficking. It localizes to the nucleus or cytoplasm and is highly expressed in the pineal gland and the retina. In the retina, AIPL1 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the adult human retina. Defects in the gene encoding for AIPL1 can cause Leber congenital amaurosis type IV, an early-onset, inherited autosomal recessive disorder that results in childhood blindness. Function: May be important in protein trafficking and/or protein folding and stabilization. Subunit: Interacts with NUB1. Subcellular Location: Cytoplasm. Nucleus. Tissue Specificity: Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina. DISEASE: Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) [MIM:604393]. 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. Similarity: Contains 1 PPIase FKBP-type domain. Contains 3 TPR repeats. SWISS: Q9NZN9 Gene ID: 23746 Database links: Entrez Gene: 23746 Human Entrez Gene: 114230 Mouse Entrez Gene: 59110 Rat Omim: 604392 Human SwissProt: Q9NZN9 Human SwissProt: Q924K1 Mouse SwissProt: Q9JLG9 Rat Unigene: 279887 Human Unigene: 95707 Mouse Unigene: 102037 Rat

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