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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MMAB Gene

protein-coding GIFtS: 63
GCID: GC12M109991

methylmalonic aciduria (cobalamin deficiency) cblB type

(Previous name: methylmalonic aciduria (cobalamin deficiency) type B )

Explore 8 diseases affiliated with
MMAB 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

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

Quality score for the ORGUL clustered with this gene is 3

Aliases
Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type¹ ²		ATP:Cob(I)Alamin Adenosyltransferase²
CblB¹		ATP:Corrinoid Adenosyltransferase²
Methylmalonic Aciduria Type B Protein² ³		Cob¹
Methylmalonic Aciduria (Cobalamin Deficiency) Type B¹		Cob(I)Yrinic Acid A,C-Diamide Adenosyltransferase, Mitochondrial²
ATR²		EC 2.5.1.17³
Aquocob(I)Alamin Vitamin B12s Adenosyltransferase²		Cob(I)Alamin Adenosyltransferase³

External Ids:	HGNC: 19331¹	Entrez Gene: 326625²	Ensembl: ENSG00000139428⁷	OMIM: 607568⁵	UniProtKB: Q96EY8³

ORGUL members:
	NONCODE:n410717

Export aliases for MMAB gene to outside databases

Previous GC identifers: GC12U900014 GC12M109886 GC12M108455 GC12M107009

(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 MMAB:

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin

(AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of

vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced

transcript variants have been found. (provided by RefSeq, Apr 2011)

summary for MMAB:

ATR (Ataxia telangiectasia and Rad3 related) and ATM (Ataxia telangiectasia mutated) are closely related

kinases that are activated by DNA damage. These serine-threonine protein kinases are part of the

phosphatidylinositol 3' kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding

proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by

phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and

either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst

ATR is activated by single strand breaks and phosphorylates Chk1.

Gene Wiki entry for MMAB

(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_000012.11 NC_018923.1 NT_009775.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MMAB gene promoter:
SREBP-1a SREBP-1c SREBP-1b
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MMAB promoter sequence

Search SABiosciences Chromatin IP Primers for MMAB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MMAB

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

Entrez Gene cytogenetic band: 12q24 Ensembl cytogenetic band: 12q24.11 HGNC cytogenetic band: 12q24

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

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M109991: view genomic region (about GC identifiers)

Start:	109,991,520 bp from pter	End:	110,011,679 bp from pter
Size:	20,160 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: MMAB_HUMAN, Q96EY8 (See protein sequence)

Recommended Name: Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial precursor

Size: 250 amino acids; 27388 Da

Subunit: Homotrimer

Subcellular location: Mitochondrion (Probable)

1 PDB 3D structure from and Proteopedia for MMAB:

2IDX (3D)

Secondary accessions: C5HU05 Q9BSH0

Explore the universe of human proteins at neXtProt for MMAB: NX_Q96EY8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96EY8

MMAB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_443077.1

ENSEMBL proteins:

ENSP00000445920 ENSP00000444793 ENSP00000438079 ENSP00000440088 ENSP00000416136

ENSP00000266839

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	Uscn Proteins for MMAB

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:0005739	mitochondrion	IDA	--

MMAB for ontologies About GeneDecksing

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

MMAB for domains About GeneDecksing

3 InterPro domains/families:

IPR017858 AdoCbl_syn_CblAdoTrfase_PduO_N

IPR002779 AdoCbl_synth_CblAdoTrfase

IPR016030 AdoCbl_synth_CblAdoTrfase-like

Graphical View of Domain Structure for InterPro Entry Q96EY8

ProtoNet protein and cluster: Q96EY8

1 Blocks protein family: IPB002779 Protein of unknown function DUF80

UniProtKB/Swiss-Prot: MMAB_HUMAN, Q96EY8

Similarity: Belongs to the Cob(I)alamin adenosyltransferase family

(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

Function Summary:

UniProtKB/Swiss-Prot: MMAB_HUMAN, Q96EY8

Catalytic activity: ATP + cob(I)yrinic acid a,c-diamide = triphosphate + adenosylcob(III)yrinic acid a,c-diamide

Catalytic activity: ATP + cobinamide = triphosphate + adenosylcobinamide

Enzyme Number (IUBMB): EC 2.5.1.17¹

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		hsa-miR-549 hsa-miR-132* hsa-miR-3152-3p hsa-miR-607 hsa-miR-300 hsa-miR-1197 hsa-miR-4272 hsa-miR-199a-3p

		SwitchGear 3'UTR luciferase reporter plasmid: MMAB 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMAB

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:0005524	ATP binding	IEA	--
GO:0008817	cob(I)yrinic acid a,c-diamide adenosyltransferase activity	IEA	--

MMAB for ontologies 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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

Metabolic pathways

0.38

Glucuronidation

Porphyrin and chlorophyll metabolism

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Tocris Bioscience Pathway for MMAB

Apoptosis Pathway

2 Kegg Pathways (Kegg details for MMAB):

	Porphyrin and chlorophyll metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: MMAB_HUMAN, Q96EY8

Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis; adenosylcobalamin from cob(II)yrinate a,c-diamide: step

2/7

MMAB for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

5/232 Interacting proteins for MMAB (Q96EY8^{2, 3} ENSP00000266839⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 232)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ICT1	Q14197²^,³, ENSP00000301585⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000301585
MTRR	Q9UBK8³, ENSP00000264668⁴	I2D: score=1 STRING: ENSP00000264668
INSR	P06213³	I2D: score=1
AARS2	Q5JTZ9²	MINT-8079030
AASS	Q9UDR5²	MINT-8079030

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0009236	cobalamin biosynthetic process	IEA	--

MMAB 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

MMAB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for MMAB available from Tocris Bioscience About this table

Compound	Action	CAS #
CGK 733	Selective inhibitor of ATR and ATM kinases	[905973-89-9]

10 HMDB Compounds for MMAB About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Adenosyl cobinamide	adenosylcobinamide (see all 2)	--	--
Adenosyl cobyrinic acid a,c diamide	Adenosyl cobyrinate diamide (see all 4)	--	--
Adenosylcobalamin	(5'-Deoxy-5'-adenosyl)cobamide coenzyme (see all 15)	13870-90-1	--
Cob(I)alamin	Vitamin B12s (see all 5)	18534-66-2	--
Cob(I)yrinate a,c diamide	Cob(I)yrinate diamide (see all 2)	--	--
Cobinamide	cobinamide (see all 3)	13497-85-3	--
Cyanocobalamin	Dimethylbenzimidazoylcobamide (see all 92)	68-19-9	--
Manganese	manganese	7439-96-5	--
Triphosphate	triphosphate(5-) (see all 6)	14127-68-5	--

2 DrugBank Compounds for MMAB About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Cyanocobalamin	Cyanocob(III)alamin (see all 3)	68-19-9	enzyme	substrate	16410054 16439175
Hydroxocobalamin	Hydroxomin (see all 2)	13422-51-0	target	other	17139284 17016423

4 Novoseek chemical compound relationships for MMAB gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adenosylcobalamin	95.7	14	15347655 (3), 15308131 (1), 17410422 (1), 17300749 (1) (see all 8)
cobalamin	89.6	12	15347655 (3), 17471589 (2), 16439175 (2), 12471062 (1) (see all 6)
vitamin b12	73.4	3	15347655 (1), 16439175 (1), 16410054 (1)
atp	40.1	7	15044458 (1), 17176040 (1), 19625202 (1), 15347655 (1)

Search CenterWatch for drugs/clinical trials and news about MMAB

(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

REFSEQ mRNAs for MMAB gene:

NM_052845.3

Unigene Cluster for MMAB:

Methylmalonic aciduria (cobalamin deficiency) cblB type

Hs.12106 [show with all ESTs]

Unigene Representative Sequence: NR_038118

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

ENST00000545712(uc001tov.3 uc001tou.3 uc010sxq.2) ENST00000540016

ENST00000537496 ENST00000544051 ENST00000541763 ENST00000542390 ENST00000420167

ENST00000536760 ENST00000503497 ENST00000537236 ENST00000266839

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		8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate MMAB (see all 45):
		hsa-miR-549 hsa-miR-132* hsa-miR-3152-3p hsa-miR-607 hsa-miR-300 hsa-miR-1197 hsa-miR-4272 hsa-miR-199a-3p

		SwitchGear 3'UTR luciferase reporter plasmid: MMAB 3' UTR sequence

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Additional cDNA sequence:

AK295211.1 AK312598.1 BC005054.1 BC011831.2 NR_038118.1

9 DOTS entries:

DT.313974 DT.100794335 DT.92429245 DT.99998435 DT.121114106 DT.121114110 DT.75102466 DT.91825977

DT.95375223

24/153 AceView cDNA sequences (see all 153):

BQ068846 BC011831 BU731537 CR609621 C04493 BP870891 BX094323 CR619543

BE645172 AA350851 BE908308 BQ058287 CR615060 BM704443 BQ058443 BU902351

CR619514 CB241791 BP345646 BM837413 BQ668991 AA236579 NM_052845 BE278564

GeneLoc Exon Structure

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

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13a	·	13b	·	13c	·	13d
SP1:															-				-		-		-				-				-				-
SP2:															-				-		-		-				-				-
SP3:													-		-				-		-		-				-				-
SP4:															-				-		-		-				-				-
SP5:													-		-		-		-		-		-				-				-				-

ECgene alternative splicing isoforms for MMAB

(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

MMAB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCGATGGCCG

About this image

MMAB expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Endocardium

Endocardial Tube Cells

Endocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MMAB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MMAB

SOURCE GeneReport for Unigene cluster: Hs.12106

UniProtKB/Swiss-Prot: MMAB_HUMAN, Q96EY8

Tissue specificity: Expressed in liver and skeletal muscle

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In Situ
Assay Products:

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(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 animals.

Orthologs for MMAB gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mmab^{1 , 5}	methylmalonic aciduria (cobalamin deficiency) type more^{1, 5}	86.38(n)¹ 87.39(a)¹		5 (55.99 cM)⁵ 77697¹ NM_029956.3¹ NP_084232.1¹ 114431034⁵
chicken (Gallus gallus)	Aves	LOC100858339¹	cob(I)yrinic acid a,c-diamide adenosyltransferase, more	67.79(n) 71.98(a)		100858339 XM_003643200.1 XP_003643248.1
zebrafish (Danio rerio)	Actinopterygii	Dr.18617²	Transcribed sequence with weak similarity to protein more	72.4(n)		AL920864.1
honey bee (Apis mellifera)	Insecta	--	--	29(a)	1 ↔ 1	GroupUn.46(125516-126806)
worm (Caenorhabditis elegans)	Secernentea	mmab-1¹	Protein MMAB-1	46.41(n) 44.75(a)		175661 NM_065637.4 NP_498038.2

ENSEMBL Gene Tree for MMAB (if available)
TreeFam Gene Tree for MMAB (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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28941784^1,2	C	pathogenic	107016852(-)	`TCTGCC/TGGGCC`	3	R W	mis¹ ese³		0	--	--	--	--
rs72650173^1,2	F	--	107009374(+)	`TAAAAC/ATTGTGC`	2	--	ds500¹		1		NS	374
rs2241203^1,2	H	--	107009532(-)	`CTTTGT/CATAAT`	2	--	ut3¹ nc-transcript-variant		4		NS EA	418
rs73414071^1,2	C,	--	107009637(+)	`GGAAGG/TTGTCG`	2	--	ut3¹ nc-transcript-variant		2		WA	120
rs72650175^1,2	C	--	107009740(+)	`TTACTC/TGATGA`	2	--	ut3¹ nc-transcript-variant		1		NS	374
rs78065254^1,2	C,F,	--	107009796(+)	`TAGGTT/CGAGAA`	2	--	ut3¹ nc-transcript-variant		1		WA	118
rs73414074^1,2	C,	--	107010187(+)	`AGGCGG/AAGGAG`	2	--	nc-transcript-variantut3¹		2		WA	120
rs77111225^1,2		--	107010421(+)	`CAGCGG/AGGGCT`	2	--	ut3¹ nc-transcript-variant		1		WA	118
rs72650176^1,2	C,F,	--	107010473(+)	`TCCCAC/TCTGGT`	2	--	nc-transcript-variantut3¹		1		NS	374
rs61940463^1,2	C,F,	--	107010863(+)	`GTTGTA/GTTTAC`	2	--	nc-transcript-variantut3¹		5		WA NA EA	244

HapMap Linkage Disequilibrium report for MMAB (109991520 - 110011679 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MMAB: --
Human Gene Mutation Database (HGMD): MMAB

Locus Specific Mutation Databases (LSDB): MMAB

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(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

MMAB for disorders           About GeneDecksing

OMIM gene information: 607568
OMIM disorders: 251110
UniProtKB/Swiss-Prot: MMAB_HUMAN, Q96EY8

Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB) [MIM:251110]; also known as

methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is a

disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is

autosomal recessive

8 diseases for MMAB: About MalaCards

methylmalonic acidemia metabolic disorders ataxia telangiectasia ataxia

cholesterol tuberculosis mycobacterium tuberculosis alcoholism

1 disease from the University of Copenhagen DISEASES database for MMAB:

Methylmalonic acidemia

2 Novoseek disease relationships for MMAB gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
methylmalonic aciduria	96	8	15308131 (1), 17410422 (1), 20159775 (1), 17176040 (1) (see all 8)
metabolic disorder	34.9	1	17176040 (1)

GeneTests: MMAB

Methylmalonic Acidemia

Human Genome Epidemiology (HuGE) Navigator: MMAB (9 documents)

Export disorders for MMAB 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 MMAB gene, integrated from 9 sources (see all 42):
(articles sorted by number of sources associating them with MMAB)

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

Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. (PubMed id 12514191)^{1, 2, 3, 9} Leal N.A.... Bobik T.A. (2003)
Identification of the gene responsible for the cblB complementation group of vitamin B(12)-dependent methylmalonic aciduria. (PubMed id 12471062)^{1, 2, 3, 9} Dobson C.M.... Gravel R.A. (2002)
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PubMed id 15781192)^{1, 2, 9} Martinez M.A....Perez B. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase. (PubMed id 15347655)^{1, 9} Leal N.A....Bobik T.A. (2004)
Allelic expression imbalance at high-density lipoprot ein cholesterol locus MMAB-MVK. (PubMed id 20159775)^{1, 9} Fogarty M.P....Mohlke K.L. (2010)
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. (PubMed id 16410054)^{7, 9} Lerner-Ellis J.P....Rosenblatt D.S. (2006)
Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. (PubMed id 16439175)^{7, 9} Zhang J....Gravel R.A. (2006)
Structure of ATP-bound human ATP:cobalamin adenosyltransferase. (PubMed id 17176040)^{2, 9} Schubert H.L. and Hill C.P. (2006)
Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. (PubMed id 17410422)^{1, 9} Keeratichamroen S....Svasti J. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 326625	HGNC: 19331	AceView: MMAB	Ensembl:ENSG00000139428	euGenes: HUgn326625
ECgene: MMAB	Kegg: 326625	H-InvDB: MMAB

(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

Name	Description
PharmGKB entry for MMAB	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MMAB

Intellectual Property for MMAB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MMAB gene:
Search GeneIP for patents involving MMAB

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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