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AASS Gene

protein-coding   GIFtS: 54

GC07M121503
aminoadipate-semialdehyde synthase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
LKR/SDH 2, 3
LKRSDH 1, 2
LORSDH 1, 2
Descriptions
alpha-aminoadipate semialdehyde synthase 2
aminoadipate-semialdehyde synthase 2
aminoadipic semialdehyde synthase 2
lysine-2-oxoglutarate reductase 2
lysine-ketoglutarate reductase /saccharopine dehydrogenase 2
External Ids
HGNC: 173661
Entrez Gene: 101572
UniProtKB: Q9UDR53
Ensembl: ENSG000000083117
Search outside databases for aliases for AASS gene

Previous GC identifers: GC07M120194 GC07M121256 GC07M121270 GC07M121310

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for AASS:
This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine
degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain
lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in
the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated
with familial hyperlysinemia. [provided by RefSeq]

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
Function: Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The
N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine
dehydrogenase activity, respectively

Gene Wiki entry for AASS

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AASS gene  

Entrez Gene cytogenetic band: 7q31.3   Ensembl cytogenetic band:  7q31.32   HGNC cytogenetic band: 7q31.3

AASS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M121503:     (about GC identifiers)

Start:
121,503,423 bp from pter
End:
121,571,504 bp from pter
Size:
68,082 bases
Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 121,110,861-121,168,545     
RefSeq DNA sequence:
NC_000007.12  NT_007933.14  NT_079596.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5 (See protein sequence)
Recommended Name: Alpha-aminoadipic semialdehyde synthase, mitochondrial precursor  
Size: 926 amino acids; 102132 Da
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion (By similarity)
Secondary accessions: O95462

REFSEQ proteins: NP_005754.2  

ENSEMBL proteins: 
ENSP00000351834 ENSP00000377040 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005739 mitochondrion TAS10567240
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Antibodies for AASS: 
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Sigma-Aldrich Antibodies for AASS
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
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Assays for AASS: 
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Browse Kits and Assays available from Millipore
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Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5 InterPro domains/families:
 IPR007698 Ala_DH/PNT_C
 IPR008142 Ala_DH/PNT_CS1
 IPR005097 Saccharopine_DH
 IPR007886 Ala_DH/PNT_N
 IPR008143 Ala_DH/PNT_CS2


   GeneDecks  AASS for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9UDR5

ProtoNet protein and cluster: Q9UDR5

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
Similarity: In the N-terminal section; belongs to the AlaDH/PNT family
Similarity: In the C-terminal section; belongs to the saccharopine dehydrogenase family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AASS)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005763

              Applied Biosystems Silencer® siRNAs for AASS

              Sigma-Aldrich siRNA and siRNA Panels for AASS  
                     Sigma-Aldrich shRNA for AASS  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005763
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005763
                                 untagged cDNA clone in CMV expression vector: NM_005763 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_005763

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
Function: Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The
N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine
dehydrogenase activity, respectively
Catalytic activity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine +
2-oxoglutarate + NADPH
Catalytic activity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate +
2-aminoadipate 6-semialdehyde + NADH
Induction: Induced by starvation (By similarity)

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005488 binding IEA--
GO:0009055 electron carrier activity IEA--
GO:0016491 oxidoreductase activity IEA--
GO:0047130 saccharopine dehydrogenase (NADP+, L-lysine-forming) activity IEA--
GO:0047131 saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity NAS10775527
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Invitrogen iPath™ Online BioAtlas - Pathway for AASS (Maps provided by GeneGo):
 Leucine and lysine metabolism

   GeneDecks  AASS for the pathways selected above  
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for  AASS  (Your Favorite Gene powered by Ingenuity) 
 Lysine Biosynthesis
 Lysine Degradation

   GeneDecks  AASS for the pathways selected above  
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2 Kegg Pathways  (Kegg details for AASS):
 hsa00300 Lysine biosynthesis
 hsa00310 Lysine degradation

   GeneDecks  AASS for the pathways selected above  
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UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from
L-lysine: step 1/6
Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from
L-lysine: step 2/6


5 Interacting proteins for AASS (ENSP000003518343) via UniProtKB, MINT, and/or STRING

InteractantInteraction Details
GeneCardExternal ID(s)
AASDHPPTENSP000002786183STRING (score=.976)
SCCPDHENSP000003554673STRING (score=.961)
KARSENSP000003254483STRING (score=.899)
SRMENSP000003661563STRING (score=.802)
BTDENSP000003064773STRING (score=.8)
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3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006554 lysine catabolic process NAS10775527
GO:0051262 protein tetramerization TAS10567240
GO:0055114 oxidation reduction IEA--
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for AASS
10/12 Novoseek chemical compound relationships for AASS gene (see all 12 )
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
saccharopine 97.07 46 9286108 (6), 11080311 (2), 10775527 (2), 17854830 (2) (see all 15)
alpha-aminoadipic semialdehyde 86.73 9 10775527 (3), 9249048 (1)
glyceraldehyde 67.71 3 9513410 (1), 2134294 (1), 12355795 (1)
lysine 63.11 26 11080311 (2), 10775527 (2), 9286108 (2), 18839315 (1) (see all 12)
aldose 50.19 2 12615520 (1), 1748066 (1)
nadh 44.76 8 12962626 (2), 8736155 (1), 11371030 (1), 8885129 (1)
nad+ 37.50 6 11080311 (1), 12962626 (1)
fructose 35.80 4 12962626 (1), 8885129 (1)
glycogen 8.65 1 9145586 (1)
atp 8.43 4 9915670 (2), 15284438 (1)
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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AASS)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005763

              Sigma-Aldrich siRNA and siRNA Panels for AASS  
                     Sigma-Aldrich shRNA for AASS  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_005763  

REFSEQ mRNAs for AASS gene: 

NM_005763.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_005763  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005763
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005763
                                 untagged cDNA clone in CMV expression vector: NM_005763 

Additional cDNA sequence: 

AF229180.1 AK023446.1 AK225898.1 AK294326.1 BC144246.1 BC144247.1 

9 DOTS entries:

DT.97818478  DT.447975  DT.100784090  DT.95261180  DT.92036833  DT.40129587  DT.40274506  DT.91701477 
DT.121112877 

24/166 AceView cDNA sequences (see all 166 ):

BM669241 BE465730 AA256200 BE326875 AA729905 BF439626 AI634665 W32719 
W20467 AW827094 BF109455 AI365151 AA976207 AI651132 AW611933 BE674228 
AI912536 AI917478 AI621212 AW006283 BE466144 AJ007714 AI733187 AA485511 

highest scoring ESTs for AASS:

AJ007714 AF229180 AI431918 AL699223 AU100512 BX498682 CD654519 CD656282 AA721427 AI022321 

Unigene Cluster for AASS:

Aminoadipate-semialdehyde synthase
Hs.156738  [show with all ESTs]
Unigene Representative Sequence: NM_005763


GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for AASS (see all 7 )

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a ·
SP1:              -                                                                 -                 -                             -                           
SP2:                                                                                -                 -                             -                           
SP3:                                                                                                                                                            
SP4:                                                                                                                                                            
SP5:                                                                                                                                                            

ExUns: 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1:                    -     -                       -                           
SP2:                    -     -                       -                           
SP3:                                                                              
SP4:                                      -                                       
SP5:                                                                              

About this scheme

ECgene alternative splicing isoforms for AASS

2 Ensembl transcripts including schematic representations:
ENST00000358954  ENST00000393376  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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AASS expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for AASS

1 / 2 / 3

6 probe-sets matching AASS gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

35870_at2, 3 U95-A 1 1.00 1.00 0.91 0.88 AJ007714 1.00 1.00 1.00 1

91550_r_at2, 3 U95-E 1 1.00 1.00 0.95 1.12 AI431918 0.80 1.00 0.91 1

214829_at2, 3 U133-A 1 1.00 1.00 -- -- AK023446 0.60 1.00 0.82 1

210852_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF229180 0.80 1.00 0.91 1

214829_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

210852_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AAAGGCCACA

SOURCE GeneReport for Unigene cluster: Hs.156738

Expression variation in blood from EXPOLDB for AASS

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
Tissue specificity: Expressed in all 16 tissues examined with highest expression in the liver

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for AASS gene from 5/18 species (see all 18 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
AASS1   -- aminoadipate-semialdehyde synthase 86.88(n)
89.89(a)
482429  XM_539546.2  XP_539546.2 
chimpanzee
(Pan troglodytes)
AASS1   -- aminoadipate-semialdehyde synthase 99.5(n)
99.68(a)
472493  XM_527868.2  XP_527868.2 
cow
(Bos taurus)
AASS1   -- aminoadipate-semialdehyde synthase 89.44(n)
90.38(a)
520865  XM_599115.3  XP_599115.3 
rat
(Rattus norvegicus)
Aass1   -- aminoadipate-semialdehyde synthase 79.13(n)
78.95(a)
296925  XM_231524.4  XP_231524.4 
mouse
(Mus musculus)
Aass1, 5 6 (4.50 cM)5
aminoadipate-semialdehyde synthase1, 5 84.68(n)1
87.57(a)1
309561  NM_013930.31  NP_038958.21 
 AJ2247615  AK0443235  (see all 12)
About this table        Species with no ortholog for AASS

ENSEMBL Gene Tree for AASS
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/274 NCBI SNPs in AASS are shown (see all 274 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 91)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs104881071,2
C,F,H121561885(+) AGATCA/GTTTTT 1 -- ng3116Minor allele frequency- G:0.21NS EU EA WA NA 1080
rs12063801,2
A,C,F121503201(+) TCTGAC/TTAAAA 1 -- ut311Minor allele frequency- T:0.35MN 184
--
rs122171,2
C,F,H121501889(+) acttaT/Caatat 1 -- ut319Minor allele frequency- C:0.40MN EU EA WA NA 930
--
rs102464051,2
A,C121562204(+) tgtggA/Cacata 1 -- ng310--------
rs102424431,2
C,F121561227(+) TAACTG/ACAAAA 1 -- ng313Minor allele frequency- A:0.12NA 126
--
rs171440721,2
H121506191(+) GGCATC/TCAGAA 1 D/N mis1 ese35Minor allele frequency- T:0.16MN EU EA WA 590
rs2797021,2
H121561018(+) GCATCT/CTGACA 1 -- ut51 ese38Minor allele frequency- C:0.00NA EA MN EU WA 798
--
rs125402161,2
C121501334(+) atctgC/Tgcaca 1 -- ut310--------
rs104645231,2
H121526074(+) ATATTC/TTAATA 1 E/K mis14Minor allele frequency- T:0.00EU EA WA 414
--
rs10617421,2
C121503123(-) CCTAAG/TTTAAG 1 -- ut311Minor allele frequency- T:0.00MN 184
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HapMap Linkage Disequilibrium images for AASS (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 605113   disorders: 238700  268700  

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5

  • Defects in AASS are the cause of hyperlysinemia [MIM:238700]. Hyperlysinemia is an
    autosomal recessive condition characterized by hyperlysinemia lysinuria and variable
    saccharopinuria
  • 3 Novoseek disease relationships for AASS gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes mellitus 5.11 2 9513410 (1), 12355795 (1)
    ischemia 0.00 2 11021367 (2)
    edema 0.00 1 8063356 (1)
    About this table

    Human Gene Mutation Database: AASS

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/64 PubMed articles for AASS gene (see all 64 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 10157 HGNC: 17366 AceView: AASS Ensembl:ENSG00000008311 euGenes: HUgn10157
    ECgene: AASS H-InvDB: AASS
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=AASS
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for AASS:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for AASS Antibodies for AASS
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
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