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HCCS Gene

protein-coding   GIFtS: 62

GC0XP011039
holocytochrome c synthase (cytochrome c heme-lyase)
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
CCHL 1, 2, 3
DKFZp779I1858 2
EC 4.4.1.17 3
MCOPS7 2, 5
OTTHUMP00000022903 2
OTTHUMP00000022904 2
OTTHUMP00000022905 2
Descriptions
Holocytochrome c-type synthase 3
holocytochrome c synthase 2
holocytochrome c synthase (cytochrome c heme-lyase) 2
External Ids
HGNC: 48371
Entrez Gene: 30522
UniProtKB: P537013
Ensembl: ENSG000000049617
Search outside databases for aliases for HCCS gene

Previous GC identifers: GC0XP010108 GC0XP009895 GC0XP010425 GC0XP010490 GC0XP010889

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701
Function: Links covalently the heme group to the apoprotein of cytochrome c (By similarity)

Gene Wiki entry for HCCS

(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HCCS gene  

Entrez Gene cytogenetic band: Xp22.3   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22

HCCS 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 X         GeneLoc Exon Structure

GeneLoc location for GC0XP011039:     (about GC identifiers)

Start:
11,039,342 bp from pter
End:
11,051,122 bp from pter
Size:
11,781 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000023.9  NT_011757.15  
(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: CCHL_HUMAN, P53701 (See protein sequence)
Recommended Name: Cytochrome c-type heme lyase  
Size: 268 amino acids; 30602 Da
Subcellular location: Mitochondrion inner membrane (Potential)
Secondary accessions: Q502X8

REFSEQ proteins (2 alternative transcripts): 
NP_001116080.1  NP_005324.3  


ENSEMBL proteins: 
ENSP00000326579 ENSP00000370139 ENSP00000370140 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (HCCS)
Human Recombinant Proteins from Abnova (HCCS)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005739 mitochondrion IDA11827457
GO:0005743 mitochondrial inner membrane TAS8661044
GO:0016020 membrane IEA--
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Antibodies for HCCS: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for HCCS
Browse R&D Systems for Antibodies
Antibodies from Abcam (HCCS), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (HCCS)
Novus Biologicals Antibodies for HCCS

Assays for HCCS: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
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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1 InterPro domain/family:
 IPR000511 Cyt_C/C1_haem_lyase


   GeneDecks  HCCS for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P53701

ProtoNet protein and cluster: P53701

1 Blocks protein family: IPB000511 Cytochrome c and c1 heme-lyase

UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701
Similarity: Belongs to the cytochrome c-type heme lyase family
Similarity: Contains 2 HRM (heme regulatory motif) repeats

(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.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HCCS)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HCCS)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_005333

              Applied Biosystems Silencer® siRNAs for HCCS

              Sigma-Aldrich siRNA for HCCS  
                     Sigma-Aldrich shRNA for HCCS  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for HCCS
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001122608
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001122608
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001122608 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001122608

UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701
Function: Links covalently the heme group to the apoprotein of cytochrome c (By similarity)
Catalytic activity: Holocytochrome c = apocytochrome c + heme
Enzyme Number (IUBMB): EC 4.4.1.17 

Genatlas biochemistry entry for HCCS:
holocytochrome C-type synthetase,putatively involved in electron transport pathway

9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hccs):

cellularembryogenesisgrowth/sizehomeostasis/metabolism
lethality-prenatal/perinatallife span-post-weaning/agingmusclenormal

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

GO IDQualified GO termEvidencePubMed IDs
GO:0004408 holocytochrome-c synthase activity TAS8661044
GO:0005506 iron ion binding IEA--
GO:0016829 lyase activity IEA--
GO:0046872 metal ion binding IEA--
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(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 Kegg Pathway  (Kegg details for HCCS):
 hsa00860 Porphyrin and chlorophyll metabolism

   GeneDecks  HCCS for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  HCCS 


5/9 Interacting proteins for HCCS (ENSP000003701393) via UniProtKB, MINT, and/or STRING (see all 9 )
InteractantInteraction Details
GeneCardExternal ID(s)
ARHGAP6ENSP000003389673STRING (score=.937)
SLC1A1ENSP000002623523STRING (score=.918)
COX10ENSP000002616433STRING (score=.902)
FECHENSP000003723263STRING (score=.899)
CYCSENSP000003077863STRING (score=.795)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0009887 organ morphogenesis TAS8661044
GO:0055114 oxidation reduction TAS8661044
About this table
(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)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HCCS

(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 (HCCS)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HCCS)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_005333

              Sigma-Aldrich siRNA for HCCS  
                     Sigma-Aldrich shRNA for HCCS  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001122608  NM_005333  

REFSEQ mRNAs for HCCS gene (2 alternative transcripts): 

NM_001122608.1   NM_005333.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001122608  NM_005333  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001122608
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001122608
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001122608 

Additional cDNA sequence: 

AF143324.1 AK097815.1 BC001691.2 BC095455.1 CR594352.1 CR615500.1 CR749578.1 U36787.1 

7 DOTS entries:

DT.100822164  DT.95162995  DT.100822162  DT.441375  DT.121283626  DT.100822160  DT.100822169 

24/142 AceView cDNA sequences (see all 142 ):

AI674435 BC001691 AL561481 AW444785 AI767240 BM980388 BQ000137 CD369170 
CK904880 BQ014124 BE463562 BM841276 AI222717 CB306404 BX364583 AI801013 
AA600019 CR594352 CB160415 AK097815 BP372370 C02260 BE504530 AA310250 

highest scoring ESTs for HCCS:

AI801013 U36787 AA045318 AA122101 AA281549 AA310250 AA492536 AA514564 AA515086 AA595081 

Unigene Cluster for HCCS:

Holocytochrome c synthase (cytochrome c heme-lyase)
Hs.211571  [show with all ESTs]
Unigene Representative Sequence: NM_005333


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for HCCS

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1:              -     -     -                                   -                           
SP2:                    -     -                                   -                           
SP3:                          -                                   -                           
SP4:                          -                                                               
SP5:                                                                                          

About this scheme

ECgene alternative splicing isoforms for HCCS

3 Ensembl transcripts including schematic representations:
ENST00000321143  ENST00000380762  ENST00000380763  
(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 )
About This Section

HCCS expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for HCCS

1 / 2 / 3

6 probe-sets matching HCCS gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
38943_at2, 3 U95-A 1 1.00 1.00 0.92 0.95 U36787 1.00 1.00 1.00 1
90576_at2, 3 U95-E 1 1.00 1.00 0.95 1.05 AI801013 1.00 1.00 1.00 1

203745_at2, 3 U133-A 1 1.00 1.00 -- -- AI801013 1.00 1.00 1.00 1

203746_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005333 0.60 1.00 0.82 1

203745_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

203746_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  HCCS for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CTGCAGAGTG

SOURCE GeneReport for Unigene cluster: Hs.211571

Expression variation in blood from EXPOLDB for HCCS

(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 HCCS gene from 5/19 species (see all 19 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
LOC4808341   -- similar to Cytochrome c-type heme lyase (CCHL) (Holocytochrome more 87.06(n)
92.16(a)
480834  XM_537950.2  XP_537950.2 
chimpanzee
(Pan troglodytes)
LOC4654891   -- similar to holocytochrome c-type synthetase 92.86(n)
90.6(a)
465489  XM_520928.2  XP_520928.2 
cow
(Bos taurus)
HCCS1   -- holocytochrome c synthase 83.27(n)
89.73(a)
506250  XM_582675.3  XP_582675.3 
rat
(Rattus norvegicus)
Hccs1   -- holocytochrome c synthetase 85.82(n)
88.06(a)
317444  XM_228867.4  XP_228867.4 
mouse
(Mus musculus)
Hccs1, 5 X5
holocytochrome c synthetase1, 5 85.07(n)1
85.07(a)1
151591  NM_008222.31  NP_032248.21 
 AA4458695  AK0286085  (see all 12)
About this table        Species with no ortholog for HCCS

ENSEMBL Gene Tree for HCCS
(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


10/22 NCBI SNPs in HCCS are shown (see all 22 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 9)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr X posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs20701631,2
C11042990(+) CACTGC/TGGCTG 2 A/V mis11Minor allele frequency- T:0.02NA 44
rs37616351,2
H11038333(-) CTCCCG/ACAATT 1 -- ng514Minor allele frequency- A:0.00EU EA WA 418
rs78857931,2
F,H11046211(+) GGATCA/GTTGAT 1 -- int14Minor allele frequency- G:0.03EU EA WA 418
--
rs352973581,2
--11039396(+) AGGAA-/GGCGGCGG 2 -- ut510--------
--
rs568141931,2
--11039410(+) CGGCG-/GCGGC 
 GGCGGCG
TGAAG
2 -- ut510--------
--
rs592507601,2
--11051532(+) GGGGG-/GTGGGG 1 -- ng310--------
--
rs30866681,2
--11039421(+) cggcg-/GCGTGAAG 2 -- ut510--------
--
rs358848621,2
--11039422(+) GGCGT-/GCGGAAGT 2 -- ut510--------
--
rs59014441,2
--11039404(+) ggcgg-/CGGcggcg 2 -- ut510--------
--
rs346587331,2
--11039405(+) GCGGC-/CGGGGCGG 2 -- ut510--------
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HapMap Linkage Disequilibrium images for HCCS (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.)
About This Section

OMIM: 300056   disorders: 309801  

UniProtKB/Swiss-Prot: CCHL_HUMAN, P53701

  • Defects in HCCS are a cause of microphthalmia syndromic type 7 (MCOPS7) [MIM:309801]; also
    known as microphthalmia with linear skin defects (MLS) or MIDAS syndrome. Microphthalmia is a
    clinically heterogeneous disorder of eye formation, ranging from small size of a single eye TO
    complete bilateral absence of ocular tissues (anophthalmia). In many cases,
    microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular
    abnormalities. MCOPS7 is a disorder characterized by unilateral or bilateral microphthalmia,
    linear skin defects in affected females, and in utero lethality for males. Skin defects are
    limited to the face and neck, consisting of areas of aplastic skin that heal with age to form
    hyperpigmented areas. Additional features in female patients include agenesis of the corpus
    callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect,
    mental retardation, and diaphragmatic hernia
  • 1 Novoseek disease relationship for HCCS gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    microphthalmia 88.44 4 17893649 (1), 9674913 (1), 15576047 (1), 8661044 (1)
    About this table

    1 PharmGKB disease relationship for HCCS gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

    Human Gene Mutation Database: HCCS

    (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

    10/24 PubMed articles for HCCS gene (see all 24 ):
    (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: 3052 HGNC: 4837 AceView: HCCS Ensembl:ENSG00000004961 euGenes: HUgn3052
    ECgene: HCCS H-InvDB: HCCS
    (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=HCCS
    (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 HCCS:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for HCCS Antibodies for HCCS
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for HCCS Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for HCCS

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