Antibody Name:	Anti-AAAS Antibody
Antibody SKU:	CAB6427
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF
Reactivity:	Human
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 287-546 of human AAAS (NP_056480.1).

Application:	WB IF
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:50 - 1:200
Reactivity:	Human
Positive Samples:	MCF7, HeLa, 293T

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 287-546 of human AAAS (NP_056480.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	GGGV TNLL WSPD GSKI LATT PSAV FRVW EAQM WTCE RWPT LSGR CQTG CWSP DGSR LLFT VLGE PLIY SLSF PERC GEGK GCVG GAKS ATIV ADLS ETTI QTPD GEER LGGE AHSM VWDP SGER LAVL MKGK PRVQ DGKP VILL FRTR NSPV FELL PCGI IQGE PGAQ PQLI TFHP SFNK GALL SVGW STGR IAHI PLYF VNAQ FPRF SPVL GRAQ EPPA GGGG SIHD LPLF TETS PTSA PWDP LPGP PPVL PHSP HSHL
Gene ID:	8086
Uniprot:	Q9NRG9
Cellular Location:	Nucleus, nuclear pore complex
Calculated MW:	55kDa/59kDa
Observed MW:	59kDa

Synonyms:

AAAS, AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003, aladin

Background:

The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene.

UniProt Protein Function:	AAAS: Plays a role in the normal development of the peripheral and central nervous system. Defects in AAAS are the cause of achalasia-addisonianism- alacrima syndrome (AAAS); also known as triple-A syndrome or Allgrove syndrome. AAAS is an autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)- resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Membrane protein, integral; Nuclear envelope Chromosomal Location of Human Ortholog: 12q13 Cellular Component: nucleoplasm; centrosome; nuclear membrane; membrane; cytoplasm; nuclear pore; nuclear envelope; nucleus Biological Process: mRNA transport; viral reproduction; cytokine and chemokine mediated signaling pathway; mitotic nuclear envelope disassembly; pathogenesis; nucleocytoplasmic transport; learning; viral infectious cycle; glucose transport; protein transport; fertilization; hexose transport; regulation of nucleocytoplasmic transport; carbohydrate metabolic process; gene expression; viral transcription; mitotic cell cycle; transmembrane transport Disease: Achalasia-addisonianism-alacrima Syndrome
NCBI Summary:	The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
UniProt Code:	Q9NRG9
NCBI GenInfo Identifier:	20137527
NCBI Gene ID:	8086
NCBI Accession:	Q9NRG9.1
UniProt Related Accession:	Q9NRG9
Molecular Weight:
NCBI Full Name:	Aladin
NCBI Synonym Full Names:	aladin WD repeat nucleoporin
NCBI Official Symbol:	AAAS
NCBI Official Synonym Symbols:	AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN
NCBI Protein Information:	aladin
UniProt Protein Name:	Aladin
UniProt Synonym Protein Names:	Adracalin
Protein Family:	Aladin
UniProt Gene Name:	AAAS
UniProt Entry Name:	AAAS_HUMAN

	Western blot analysis of extracts of various cell lines, using AAAS antibody (CAB6427) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s.
	Immunofluorescence analysis of HeLa cells using AAAS antibody (CAB6427). Blue: DAPI for nuclear staining.