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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CMAHP Gene

pseudogene   GIFtS: 37
GCID: GC06M025082

Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase,...

(Previous name: cytidine monophosphate-N-acetylneuraminic acid hydroxylase...)
(Previous symbol: CMAH)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 5

Aliases
Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase,
Pseudogene1 2
     CMP-NeuAc Hydroxylase-Like Protein3
CMAH1 2 3 5     Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase Pseudogene3
Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase
(CMP-N-Acetylneuraminate Monooxygenase)(Pseudogene)1
     EC 1.14.18.28
CSAH2     

External Ids:    HGNC: 20981   Entrez Gene: 84182   Ensembl: ENSG000001684057   OMIM: 6032095   UniProtKB: Q9Y4713   
ORGUL members:    fRNAdb10:FR218287      
NCBI13:XR_000114    
NONCODE14:n407935 n345814 n405420 n346473      
RNAdb15:LIT2064    

Export aliases for CMAHP gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CMAHP Gene:
Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor,
cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are
N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of
sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant
sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is
due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase,
an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase
enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA
differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the
mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human.
It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is
undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur
in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes
indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CMAHP Gene: 
CMAHP (cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with CMAHP include charge syndrome, and acne. GO annotations related to this gene include 2 iron, 2 sulfur cluster binding and CMP-N-acetylneuraminate monooxygenase activity.

Gene Wiki entry for CMAHP (CMAH) Gene

fRNAdb sequence ontology for CMAHP:
mature_transcript - A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CMAHP
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CMAHP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CMAHP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.32   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p23-p22

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M025082:  view genomic region     (about GC identifiers)

Start:
25,081,295 bp from pter      End:
25,166,793 bp from pter
Size:
85,499 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CMAHP

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CMAH_HUMAN, Q9Y471 (See protein sequence)
Recommended Name: Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein  
Size: 72 amino acids; 8042 Da
Caution: Could be the product of a pseudogene. An Alu-mediated inactivating mutation of this gene occured in
common ancestors of humans and Neanderthals approximately 2.1-2.2 million years ago, before brain expansion. The
resulting product is a truncated and most probably inactive enzyme explaining the absence CMP-Neu5Gc sialic acid
in human, while it is abundantly expressed at the surface of many cells in other vertebrates (PubMed:9751737 and
PubMed:12192086)
Sequence caution: Sequence=BAA31160.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAA31198.1;
Type=Erroneous gene model prediction; Sequence=CAI20561.1; Type=Erroneous gene model prediction;
Sequence=CAI20562.1; Type=Erroneous gene model prediction; Sequence=CAI20563.1; Type=Erroneous gene model
prediction; Sequence=CAI20564.1; Type=Erroneous gene model prediction;
Secondary accessions: O95250 Q5TD41 Q5TD42 Q5TD43 Q5TD44 Q68DC3 Q9UEE7

Explore the universe of human proteins at neXtProt for CMAHP: NX_Q9Y471

2 DME Specific Peptides for CMAHP (Q9Y471)
 KSRLRACKN  QTTEILLCLSPVEVA 

CMAHP Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

Human Recombinant Protein Products for CMAHP: 
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Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm TAS7608218

CMAHP for ontologies           About GeneDecksing



CMAHP Antibody Products: 
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Assay Products for CMAHP: 
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Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
2 InterPro protein domains:
 IPR017941 Rieske_2Fe-2S
 IPR027033 Cnh

Graphical View of Domain Structure for InterPro Entry Q9Y471

ProtoNet protein and cluster: Q9Y471

UniProtKB/Swiss-Prot: CMAH_HUMAN, Q9Y471
Similarity: Belongs to the CMP-Neu5Ac hydroxylase family
Similarity: Contains 1 Rieske domain


CMAHP for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Enzyme Number (IUBMB): EC 1.14.18.22

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030338NOT CMP-N-acetylneuraminate monooxygenase activity NAS9751737
GO:00515372 iron, 2 sulfur cluster binding IEA--
     
CMAHP for ontologies           About GeneDecksing


Phenotypes:
     9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cmah):
 behavior/neurological  cellular  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
 immune system  mortality/aging  muscle  nervous system 

CMAHP for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for CMAHP: Cmahtm1Ykoz Cmahtm1Avrk

   inGenious Targeting Laboratory - Custom generated mouse model solutions for CMAHP 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CMAHP

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CMAHP 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CMAHP 

miRNA
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Inhib. RNA
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Gene Editing
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Clone
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                     Customized lentivirus expression plasmids for stable overexpression of CMAHP 

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMAHP


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CMAHP

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

CMAHP for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CMAHP for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CMAHP (CMAH)

2 Novoseek inferred chemical compound relationships for CMAHP gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
n-glycolylneuraminic acid 97.5 10 20047559 (2), 12880951 (1), 9343941 (1), 20445087 (1) (see all 7)
sialic acid 79.1 9 12880951 (1), 19666593 (1), 12192086 (1), 18777136 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about CMAHP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

Unigene Cluster for CMAHP:

Cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
Hs.484918  [show with all ESTs]
Unigene Representative Sequence: AK000716
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000471416 ENST00000377989(uc003nes.3 uc003new.3) ENST00000493257
ENST00000377993(uc003ner.4) ENST00000490939 ENST00000493981 ENST00000458373
ENST00000462823 ENST00000436589 ENST00000424282(uc011djv.1)
miRNA
Products:
     
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Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for CMAHP
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CMAHP
Clone
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OriGene ORF clones in mouse, rat for CMAHP
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for CMAHP
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                     Customized lentivirus expression plasmids for stable overexpression of CMAHP 
Primer
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  Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CMAHP
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Additional mRNA sequence: 

AK000716.1 AK126231.1 AK303297.1 BC022302.1 BC032500.1 BC059791.1 D86324.1 FJ794466.1 
NR_002174.2 NR_027626.1 

20 DOTS entries:

DT.100779448  DT.75141068  DT.40244723  DT.99995337  DT.210905  DT.40118908  DT.86849482  DT.92429687 
DT.97810275  DT.121306771  DT.121306977  DT.99980130  DT.121306907  DT.121306960  DT.99969112  DT.100752274 
DT.102842970  DT.121306976  DT.309099  DT.92429681 

24/144 AceView cDNA sequences (see all 144):

AA700274 AK126231 AA905192 CR611086 BQ723142 BQ183261 CA413870 BC022302 
CA447777 BU677545 AA287350 AF074480 CR749466 BQ573819 CA312822 AI275975 
AW519185 CR595916 AA369800 BX116225 CB850611 AA355734 AI147457 CD678492 

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for CMAHP (see all 15)    About this scheme

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ·
SP1:                                                        -     -                 -                                         -     -     -                 -   
SP2:                                                        -     -                 -                                         -     -     -                 -   
SP3:              -     -     -     -     -                 -     -                 -                                                                           
SP4:                                                                                                                                                        -   
SP5:                                      -                 -     -                 -     -     -     -     -                 -     -                           

ExUns: 11e ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1:  -                                   -     -           -                     
SP2:  -                                   -     -                                 
SP3:                                                                              
SP4:  -                                   -     -                                 
SP5:                                                                              


ECgene alternative splicing isoforms for CMAHP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CMAHP expression in normal human tissues (normalized intensities)      CMAHP embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CATAACAATA
CMAHP Expression
About this image


CMAHP expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/7 selected tissues (see all 7) fully expand
 
 Neural Crest (Gastrulation Derivatives)
         PureStem 4D20.8, NCr-fac Progenitor
 
 Nose (Sensory Organs)
         nasal epithelium   
 
 Ectoderm (Gastrulation Derivatives)
         PureStem ES-210, Ecto-ntu Progenitor
 
 Adipose (Muscoskeletal System)
         Body Subcutaneous White Adipose
 
 Cartilage (Muscoskeletal System)
         fetal cartilage   

Genevestigator expression for CMAHP

SOURCE GeneReport for Unigene cluster: Hs.484918

UniProtKB/Swiss-Prot: CMAH_HUMAN, Q9Y471
Tissue specificity: Widely expressed. Highly expressed in thymus. Not expressed in brain

    SABiosciences Custom PCR Arrays for CMAHP
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMAHP

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for CMAHP gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cmah5 cytidine monophospho-N-acetylneuraminic acid hydroxylase   --   13 (10.34 cM) 24376083 


ENSEMBL Gene Tree for CMAHP (if available)
TreeFam Gene Tree for CMAHP (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/1420 SNPs in CMAHP are shown (see all 1420)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs3030111,2
C,F,H--25080848(-) TGAATG/TCCTCA 1 -- int116Minor allele frequency- T:0.13NS EA NA WA 2136
rs1460853961,2
C--25080894(+) GGAGG-/AAAAAT 1 -- int10--------
rs1130904791,2
F--25080934(+) TTGAGG/TTTCCT 1 -- int11Minor allele frequency- T:0.00CSA 1
rs1923466311,2
--25080957(+) CTTGGC/TAGCAG 1 -- int10--------
rs1417720181,2
--25081001(+) TATTCG/TGAAGA 1 -- int10--------
rs94610971,2
C,F--25081018(+) TGACAA/GTTTGT 1 -- int11Minor allele frequency- G:0.03WA 118
rs775811311,2
C,F--25081123(+) CAGGAA/GATGTG 1 -- int13Minor allele frequency- G:0.04WA NA EA 358
rs1837726801,2
--25081136(+) GTATAC/TGCGAG 1 -- int10--------
rs772312821,2
C,F--25081215(+) TCAAAG/TAACTG 1 -- int11Minor allele frequency- T:0.02WA 118
rs1891475541,2
--25081391(+) TGAATA/CATTTA 1 -- nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for CMAHP (25081295 - 25166793 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for CMAHP:    About this table     
Variant IDTypeSubtypePubMed ID
esv2731720CNV Deletion23290073
esv270043CNV Insertion20981092
esv273046CNV Insertion20981092
nsv349859CNV Insertion16902084
nsv830611CNV Loss17160897
nsv470806CNV Loss18288195
nsv830610CNV Loss17160897
nsv462662CNV Loss19166990

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 603209OMIM information:   
3 diseases for CMAHP:    About MalaCards
charge syndrome    acne    malaria


CMAHP for disorders           About GeneDecksing

1 Novoseek inferred disease relationship for CMAHP gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
melanoma 4.02 1 8262898 (1)


Export disorders for CMAHP gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for CMAHP gene, integrated from 9 sources (see all 38):
(articles sorted by number of sources associating them with CMAHP)
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world of online information

  1. The molecular basis for the absence of N-glycolylneuraminic acid in humans. (PubMed id 9624188)1, 2, 3, 9 Irie A....Suzuki A. (1998)
  2. Inactivation of CMP-N-acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution. (PubMed id 12192086)1, 2, 9 Chou H.-H.... Varki A. (2002)
  3. Molecular cloning of cytidine monophospho-N-acetylneuraminic acid hydroxylase. Regulation of species- and tissue-specific expression of N-glycolylneuraminic acid. (PubMed id 7608218)1, 3, 9 Kawano T....Suzuki A. (1995)
  4. A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. (PubMed id 9751737)1, 2, 9 Chou H.-H.... Varki A. (1998)
  5. Alu-mediated inactivation of the human CMP- N-acetylneuraminic acid hydroxylase gene. (PubMed id 11562455)1, 2, 9 Hayakawa T.... Takahata N. (2001)
  6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
  7. Human CMP-N-acetylneuraminic acid hydroxylase is a no vel stem cell marker linked to stem cell-specific mechanisms. (PubMed id 19890979)1, 9 Nystedt J....Laine J. (2010)
  8. CMP-N-Acetylneuraminic acid hydroxylase is exclusively inactive in humans. (PubMed id 9675135)1, 9 Irie A. and Suzuki A. (1998)
  9. Fixation of the human-specific CMP-N-acetylneuraminic acid hydroxylase pseudogene and implications of haplotype diversity for human evolution. (PubMed id 16272417)1, 9 Hayakawa T....Takahata N. (2006)
  10. N-glycolylneuraminic acid deficiency in humans. (PubMed id 11522390)1, 9 Varki A. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 8418 HGNC: 2098 AceView: CMAH Ensembl:ENSG00000168405 euGenes: HUgn8418
ECgene: CMAHP H-InvDB: CMAHP

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for CMAHP Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CMAHP gene:
Search GeneIP for patents involving CMAHP

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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