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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CMAHP Gene

pseudogene GIFtS: 38
GCID: GC06M025082

cytidine monophospho-N-acetylneuraminic acid hydroxylase,...

(Previous name: cytidine monophosphate-N-acetylneuraminic acid hydroxylase...)
(Previous symbol: CMAH)

Explore 3 diseases affiliated with
CMAHP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

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

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:

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)

Gene Wiki entry for CMAHP (CMAH)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 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: 6p22.2 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:	25,218,698 bp from pter
Size:	137,404 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 MOPED and PaxDb: About this image

ENSEMBL proteins:

ENSP00000367232 ENSP00000367228 ENSP00000382283 ENSP00000401225 ENSP00000397893

ENSP00000406449

Human Recombinant Protein Products:

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	Browse Proteins at Uscn

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--

CMAHP for ontologies About GeneDecksing

CMAHP Antibody Products:

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	Search for Antibodies for CMAHP at Abcam
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	Search ThermoFisher Antibodies for CMAHP

Assay Products for CMAHP:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CMAHP for domains About GeneDecksing

1 InterPro domain/family:

IPR017941 Rieske_2Fe-2S

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Enzyme Number (IUBMB): EC 1.14.18.2²

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CMAHP
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CMAHP
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CMAHP (see all 6) Browse OriGene siRNA
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMAHP

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030338	NOT CMP-N-acetylneuraminate monooxygenase activity	NAS	9751737
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	--

CMAHP for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for CMAHP: Cmah^tm1Ykoz Cmah^tm1Avrk
     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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CMAHP

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--
GO:0046381	CMP-N-acetylneuraminate metabolic process	IEA	--

CMAHP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
2 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, 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

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000377993(uc003ner.4) ENST00000377989(uc003nes.3 uc003new.3)

ENST00000471416 ENST00000493257 ENST00000490939 ENST00000493981 ENST00000399346

ENST00000458373 ENST00000462823 ENST00000436589 ENST00000424282(uc011djv.1)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CMAHP
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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CMAHP (see all 6) Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CMAHP

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CMAHP

Additional cDNA 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):

CR749466 BQ723142 CA447777 BQ183261 CR595916 AI275975 BQ573819 BU677545

AA287350 CR611086 AA700274 CA312822 AK126231 AW519185 AA905192 CA413870

BC022302 AF074480 AI743456 BM995548 CB269549 AI282402 BC032500 AA664405

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATAACAATA

About this image

CMAHP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Adipose

Body Subcutaneous White Adipose

Adipose

Thoracic Perivascular Adipose

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

See CMAHP Protein Expression from SPIRE MOPED and PaxDB
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 chordates.

Orthologs for CMAHP gene from 3/7 species (see all 7) 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
lizard (Anolis carolinensis)	Reptilia	CMAHP⁶	--	65(a)	1 ↔ 1	4(53678268-53724075)
zebrafish (Danio rerio)	Actinopterygii	cmah⁶	cytidine monophospho-N-acetylneuraminic acid hydro...	56(a)	1 ↔ 1	4(2091681-2111243)

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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs303011^1,2	C,F,H,	--	25080848(-)	`TGAATG/TCCTCA`	1	--	int¹		16		NS EA NA WA	2136
rs146085396^1,2	C,	--	25080894(+)	`GGAGG-/AAAAAT`	1	--	int¹		0	--	--	--	--
rs113090479^1,2		--	25080934(+)	`TTGAGG/TTTCCT`	1	--	int¹		1		CSA	1
rs192346631^1,2		--	25080957(+)	`CTTGGC/TAGCAG`	1	--	int¹		0	--	--	--	--
rs141772018^1,2		--	25081001(+)	`TATTCG/TGAAGA`	1	--	int¹		0	--	--	--	--
rs9461097^1,2	C,F,	--	25081018(+)	`TGACAA/GTTTGT`	1	--	int¹		1		WA	118
rs77581131^1,2	C,F,	--	25081123(+)	`CAGGAA/GATGTG`	1	--	int¹		3		WA NA EA	358
rs183772680^1,2		--	25081136(+)	`GTATAC/TGCGAG`	1	--	int¹		0	--	--	--	--
rs77231282^1,2	F,	--	25081215(+)	`TCAAAG/TAACTG`	1	--	int¹		1		WA	118
rs189147554^1,2		--	25081391(+)	`TGAATA/CATTTA`	1	--	nc-transcript-variant		0	--	--	--	--

HapMap Linkage Disequilibrium report for CMAHP (25081295 - 25218698 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CMAHP: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CMAHP

DNA2.0 Custom Variant and Variant Library Synthesis for CMAHP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CMAHP for disorders           About GeneDecksing

OMIM gene information: 603209    OMIM disorders: --

3 diseases for CMAHP:    About MalaCards

charge syndrome acne malaria

1 Novoseek 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 36):
(articles sorted by number of sources associating them with CMAHP)

Utopia: connect your pdf to the dynamic
world of online information

The molecular basis for the absence of N-glycolylneuraminic acid in humans. (PubMed id 9624188)^{1, 2, 3, 9} Irie A....Suzuki A. (1998)
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)
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)
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)
Alu-mediated inactivation of the human CMP- N-acetylneuraminic acid hydroxylase gene. (PubMed id 11562455)^{1, 2, 9} Hayakawa T.... Takahata N. (2001)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
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)
CMP-N-Acetylneuraminic acid hydroxylase is exclusively inactive in humans. (PubMed id 9675135)^{1, 9} Irie A. and Suzuki A. (1998)
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)
N-glycolylneuraminic acid deficiency in humans. (PubMed id 11522390)^{1, 9} Varki A. (2001)

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

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CMAHP	Pharmacogenomics, SNPs, Pathways

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