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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AMACR Gene

protein-coding GIFtS: 61
GCID: GC05M033986

alpha-methylacyl-CoA racemase

Explore 85 diseases affiliated with
AMACR 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
Alpha-Methylacyl-CoA Racemase¹ ²		AMACRD²
RACE¹ ²		RM²
2-Methylacyl-CoA Racemase² ³		EC 5.1.99.4³
CBAS4² ⁵

External Ids:	HGNC: 451¹	Entrez Gene: 23600²	Ensembl: ENSG00000242110⁷	OMIM: 604489⁵	UniProtKB: Q9UHK6³

Export aliases for AMACR gene to outside databases

Previous GC identifers: GC05M033933 GC05M034446 GC05M034032 GC05M034033 GC05M034023

(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 AMACR:

This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)-

and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by

peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations

in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and

adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been

described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and

tumor necrosis factor related protein 3) gene. (provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6

Function: Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and

C27-bile acyl-CoAs to their (S)-stereoisomers

Gene Wiki entry for AMACR

(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_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AMACR gene promoter:
PPAR-alpha Sp1 FOXO1a ATF FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AMACR promoter sequence

Search SABiosciences Chromatin IP Primers for AMACR

Epigenetics:

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

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

Entrez Gene cytogenetic band: 5p13 Ensembl cytogenetic band: 5p13.2 HGNC cytogenetic band: 5p13.2

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

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M033986: view genomic region (about GC identifiers)

Start:	33,986,283 bp from pter	End:	34,008,220 bp from pter
Size:	21,938 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: AMACR_HUMAN, Q9UHK6 (See protein sequence)

Recommended Name: Alpha-methylacyl-CoA racemase

Size: 382 amino acids; 42387 Da

Subcellular location: Peroxisome. Mitochondrion

Sequence caution: Sequence=ACL67853.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=ACL67854.1;

Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=CAB44062.1; Type=Frameshift; Positions=62, 65, 114;

Secondary accessions: A5YM47 B8Y916 B8Y918 F8W9N1 O43673 Q3KT79 Q96GH1 Q9Y3Q1

Alternative splicing: 4 isoforms: Q9UHK6-1 Q9UHK6-2 Q9UHK6-4 Q9UHK6-5 (Expression is elevated in prostate cancer)

Explore the universe of human proteins at neXtProt for AMACR: NX_Q9UHK6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UHK6

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

REFSEQ proteins (3 alternative transcripts):

NP_001161067.1 NP_055139.4 NP_976316.1

ENSEMBL proteins:

ENSP00000334424 ENSP00000371504 ENSP00000427227 ENSP00000371517 ENSP00000424351

ENSP00000403800

Reactome Protein details: Q9UHK6
Human Recombinant Protein Products for AMACR:

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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	15941950
GO:0005739	mitochondrion	IDA	11060344
GO:0005777	peroxisome	IDA	11060344
GO:0005782	peroxisomal matrix	TAS	--

AMACR for ontologies About GeneDecksing

AMACR Antibody Products:

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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

AMACR for domains About GeneDecksing

2 InterPro domains/families:

IPR023606 CoA-Trfase_III_dom

IPR003673 CoA-Trfase_fam_III

Graphical View of Domain Structure for InterPro Entry Q9UHK6

ProtoNet protein and cluster: Q9UHK6

1 Blocks protein family: IPB003673 L-carnitine dehydratase/bile acid-inducible protein F

UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6

Similarity: Belongs to the CaiB/BaiF CoA-transferase family

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: AMACR_HUMAN, Q9UHK6

Function: Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and

C27-bile acyl-CoAs to their (S)-stereoisomers

Catalytic activity: (2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA

Genatlas biochemistry entry for AMACR:

alpha-methylacyl-CoA racemase,expressed in liver,peroxisomal,converting pristanoyl-CoA and C27 beta acyl-CoA to their

(5) stereoisomers,essential step for the formation of cholic acid by the normal peroxisomal pathway

Enzyme Number (IUBMB): EC 5.1.99.4¹

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0005102	receptor binding	IPI	11060344
GO:0008111	alpha-methylacyl-CoA racemase activity	IMP	10655068

AMACR for ontologies About GeneDecksing

Phenotypes:
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Amacr):

adipose tissue

growth/size

homeostasis/metabolism

liver/biliary system

mortality/aging

AMACR for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Amacr^tm1Jkh for AMACR

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for AMACR

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMACR

(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 - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Synthesis of bile acids and bile salts

Synthesis of bile acids and bile salts	1.00	Bile acid and bile salt metabolism	0.70
Primary bile acid biosynthesis	0.84	Synthesis of bile acids and bile salts via 24-hydroxycholesterol	0.53
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	0.79

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Peroxisomal lipid metabolism

Peroxisomal lipid metabolism

1.00

Beta-oxidation of pristanoyl-CoA

0.40

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Selected targets of ESR1

Selected targets of ESR1

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for AMACR

Selected targets of ESR1

1 Cell Signaling Technology (CST) Pathway for AMACR

Glucose / Energy Metabolism

5/8 Reactome Pathways for AMACR (see all 8)

	Synthesis of bile acids and bile salts via 24-hydroxycholesterol
	Beta-oxidation of pristanoyl-CoA
	Bile acid and bile salt metabolism
	Metabolism
	Peroxisomal lipid metabolism

3 Kegg Pathways (Kegg details for AMACR):

	Primary bile acid biosynthesis
	Metabolic pathways
	Peroxisome

UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6

Pathway: Lipid metabolism; bile acid biosynthesis

Pathway: Lipid metabolism; fatty acid metabolism

AMACR for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5 Interacting proteins for AMACR (Q9UHK6³ ENSP00000334424⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SELRC1	Q96BR5³	I2D: score=4
ATP5G2	Q06055³	I2D: score=2
ACOX2	ENSP00000307697⁴	STRING: ENSP00000307697
ACOX3	ENSP00000348775⁴	STRING: ENSP00000348775
SLC27A5	ENSP00000263093⁴	STRING: ENSP00000263093

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006699	bile acid biosynthetic process	TAS	--
GO:0008206	bile acid metabolic process	TAS	--
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	--
GO:0044255	cellular lipid metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

AMACR 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

AMACR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AMACR

2 HMDB Compounds for AMACR About this table

Compound	Synonyms	CAS #	PubMed Ids
Heptanoyl-CoA	2-methyloctanoyl CoA, 21 (see all 2)	--	--
Pristanoyl-CoA	3-Oxopristanoyl-CoA (see all 4)	--	--

10/35 Novoseek chemical compound relationships for AMACR gene (see all 35) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
trihydroxycholestanoic acid	83.2	3	11160375 (1), 11060359 (1), 11861706 (1)
pristanic acid	80.9	15	11893780 (2), 11060359 (2), 11160375 (1), 10709653 (1) (see all 10)
phytanic acid	69.9	9	15712232 (1), 18080240 (1), 12917210 (1), 11948235 (1) (see all 7)
ddp-cr	51.2	2	9196290 (1), 11460706 (1)
adenylate	37.3	9	9602125 (1), 11032382 (1), 15639812 (1), 17406530 (1) (see all 5)
acyl-coa	29.4	8	11473573 (2), 11356171 (1), 11992265 (1), 9803880 (1)
oligonucleotide	29.3	6	11126119 (1), 7589466 (1), 17208011 (1), 19837043 (1) (see all 5)
fatty acid	24.7	18	15599942 (2), 11356171 (1), 11956072 (1), 15632186 (1) (see all 13)
hematoxylin	23.1	5	16681682 (1), 15043314 (1), 15832080 (1), 17069678 (1)
methionine	20.8	2	8011166 (1), 7753485 (1)

Search CenterWatch for drugs/clinical trials and news about AMACR

(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, Sirion Biotech, 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 AMACR gene (6 alternative transcripts):

NM_001167595.1 NM_014324.5 NM_203382.2 NM_001167596.1 NM_001167597.1 NM_001167598.1

Unigene Cluster for AMACR:

Alpha-methylacyl-CoA racemase

Hs.508343 [show with all ESTs]

Unigene Representative Sequence: NM_014324

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

ENST00000335606(uc003jij.3 uc003jig.3 uc003jih.3) ENST00000382072

ENST00000506639 ENST00000514195 ENST00000382085 ENST00000502637 ENST00000426255(uc003jik.2 uc003jil.2)

ENST00000512079 ENST00000382068 ENST00000441713

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Additional cDNA sequence:

AF047020.1 AF158378.1 AJ130733.1 AK000912.1 AK022765.1 AK222831.1 AK225749.1 AK292988.1

AY330488.1 AY330489.1 AY935981.1 BC009471.1 BT007193.1 EF560721.1 FJ498906.1 FJ498907.1

FJ498908.1

8 DOTS entries:

DT.309182 DT.92449921 DT.101973657 DT.92449924 DT.97770152 DT.92449923 DT.308935 DT.92009684

24/212 AceView cDNA sequences (see all 212):

AW293739 AI215841 BF858182 CR616479 BM987815 BU071196 AI369058 AI559314

BQ009670 AI468850 NM_014324 AW338481 BF196011 AI521218 CR618063 AW140056

AA534857 BF858148 BF857745 AL119905 AA969459 AA357593 AI538685 AA931260

GeneLoc Exon Structure

(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

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

About this image

AMACR 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

Outflow Tract

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.508343

SABiosciences Custom PCR Arrays for AMACR

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMACR

(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 AMACR gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Amacr^{1 , 5}	alpha-methylacyl-CoA racemase^{1, 5}	79.7(n)¹ 77.43(a)¹	15 (5.39 cM)⁵ 17117¹ NM_008537.4¹ NP_032563.2¹ 10981756⁵
chicken (Gallus gallus)	Aves	AMACR¹	alpha-methylacyl-CoA racemase	71.12(n) 71.73(a)	427429 NM_001031448.1 NP_001026619.1
African clawed frog (Xenopus laevis)	Amphibia	Xl.10222²	Xenopus laevis transcribed sequence with weak similarity more	76.53(n)	BJ628374.1
zebrafish (Danio rerio)	Actinopterygii	c1qtnf3¹	C1q and tumor necrosis factor related protein 3	60.91(n) 62.83(a)	553653 NM_001020626.1 NP_001018462.1
fruit fly (Drosophila melanogaster)	Insecta	CG9319^{1 , 3}	alpha-methylacyl-CoA racemase³ CG9319¹	44(a)³ 56.29(n)¹ 55.59(a)¹	38E4³ 35337¹ NM_136210.2¹ NP_610054.1¹
worm (Caenorhabditis elegans)	Secernentea	C24A3.4³ CELE_ZK892.4¹	E. coli L-carnitine dehydratase³ Protein ZK892.4¹	35(a)³ 51.25(n)¹ 46.91(a)¹	X(9027321-9028227)³ 174559¹ NM_063762.2¹ NP_496163.2¹

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

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

Paralogs for AMACR gene

C7orf10²

AMACR for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for AMACR
PGOHUM00000243418

(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)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121917816^1,2	C	pathogenic	33983897(-)	`CAGGCC/TGAGTG`	6	P L	mis¹		0	--	--	--	--
rs73077153^1,2	C	--	33964565(+)	`AATTAC/TTGAGT`	2	--	us2k¹		2		WA	120
rs115214355^1,2	C,F	--	33964566(+)	`ATTACT/CGAGTG`	2	--	us2k¹		1		WA	118
rs6891128^1,2	H	--	33968261(+)	`TAAAAT/AAAAAG`	3	--	int¹		4		NS EA	410
rs13357227^1,2	C,H	--	33969075(+)	`CTCTGT/CGAGTG`	3	--	int¹		5		NS EA CSA	418
rs10036477^1,2	C,F,A,H	--	33969328(+)	`CATCCC/TTTCAC`	3	--	int¹		13		NA NS EA WA CSA	679
rs10039465^1,2	C,F,A,H	--	33969496(+)	`ATAGAT/CTGTGG`	3	--	int¹		18		NS EA NA WA CSA	1641
rs111904155^1,2	C	--	33969793(+)	`ATTTTT/ATTATT`	3	--	int¹		1		WA	2
rs183670^1,2	F	--	33970226(+)	`ttacaG/Agtgtg`	3	--	int¹		3		NA CSA	6
rs10040206^1,2	C,F,A,H	--	33970360(+)	`TGCTAT/CATCAA`	3	--	int¹		11		NS EA WA CSA	1213

HapMap Linkage Disequilibrium report for AMACR (33986283 - 34008220 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for AMACR
2 CNVs: 7495 7496
Human Gene Mutation Database (HGMD): AMACR

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for AMACR

(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

AMACR for disorders           About GeneDecksing

OMIM gene information: 604489
OMIM disorders: 214950
UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6

Defects in AMACR are the cause of alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307]. AMACRD

results in elevated plasma concentrations of pristanic acid C27-bile-acid intermediates. It can be associated with

polyneuropathy, retinitis pigmentosa, epilepsy

Defects in AMACR are the cause of congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]; also

known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid or

trihydroxycoprostanic acid in bile. Clinical features include neonatal jaundice, intrahepatic cholestasis, bile duct

deficiency and absence of cholic acid from bile

20/85 diseases for AMACR (see all 85): About MalaCards

alpha-methylacyl-coa racemase deficiency bile acid synthesis defect, congenital, 4 congenital bile acid synthesis defect non-a-e hepatitis

pigmentary retinopathy neuropathy dna topoisomerase i renal clear cell carcinoma

bile duct adenoma collecting duct carcinoma barrett's esophagus atrial fibrillation

adrenomyeloneuropathy thiolase deficiency metanephric adenoma inflammatory bowel disease

refsum disease zellweger syndrome mucinous adenocarcinoma neonatal jaundice

4 diseases from the University of Copenhagen DISEASES database for AMACR:

Prostate cancer Nephrogenic adenoma Carcinoma Renal cell carcinoma

10/68 Novoseek disease relationships for AMACR gene (see all 68) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
prostatic intraepithelial neoplasia	78.3	25	18343427 (6), 15602744 (2), 11926890 (1), 15297968 (1) (see all 14)
prostatic adenocarcinoma	73.2	48	16938524 (4), 15330799 (4), 12893336 (3), 15743746 (3) (see all 22)
prostate cancer	71.9	332	15941951 (10), 15173267 (8), 11926890 (8), 11956072 (7) (see all 98)
prostate carcinoma	66.1	41	15743746 (3), 17134736 (3), 17527076 (3), 16932031 (3) (see all 24)
refsum disease	52.2	3	17956237 (1), 19703563 (1)
oncocytoma	51.5	6	14707866 (1), 15858144 (1), 16166433 (1), 18036175 (1)
zellweger syndrome	50.9	5	11160375 (1), 18577977 (1), 19703563 (1)
carcinoma spindle cell	48.9	2	16330937 (2)
adenocarcinoma	48.5	52	15958853 (5), 15725808 (3), 14739905 (3), 17550379 (2) (see all 25)
carcinoma	45.7	40	15941950 (5), 17550379 (3), 17652945 (3), 17008281 (3) (see all 22)

Genatlas disease: AMACR

sensory motor neuropathy adult onset may be associated with a retinitis pigmentosa,associated with elevated plasma

concentrations of pristanic acid and C27-bile-acid intermediates

Genetic Association Database (GAD): AMACR
Human Genome Epidemiology (HuGE) Navigator: AMACR (12 documents)

Export disorders for AMACR 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)
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PubMed articles for AMACR gene, integrated from 9 sources (see all 363):
(articles sorted by number of sources associating them with AMACR)

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

A variant of the alpha-methyl-acyl-CoA racemase gene created by a deletion in exon 5 and its expression in prostate cancer. (PubMed id 15880524)^{1, 2, 9} Mubiru J.N.... Troyer D.A. (2005)
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. (PubMed id 10655068)^{1, 2, 9} Ferdinandusse S....Wanders R.J.A. (2000)
Sequence variants of alpha-methylacyl-CoA racemase are associated with prostate cancer risk. (PubMed id 12438241)^{1, 4} Zheng S.L....Xu J. (2002)
Mitochondrial and peroxisomal targeting of 2-methylacyl-CoA racemase in humans. (PubMed id 11060344)^{1, 2} Amery L.... Van Veldhoven P.P. (2000)
Molecular cloning of cDNA species for rat and mouse liver alpha-methylacyl-CoA racemases. (PubMed id 9307041)^{1, 3} Schmitz W....Conzelmann E. (1997)
Purification and characterization of an alpha-methylacyl-CoA racemase from human liver. (PubMed id 7649182)^{1, 2} Schmitz W.... Conzelmann E. (1995)
Deletion hotspots in AMACR promoter CpG island are cis-regulatory elements controlling the gene expression in the colon. (PubMed id 19148275)^{1, 9} Zhang X....Ho S.M. (2009)
alpha-Methylacyl coenzyme A racemase as a tissue biomarker for prostate cancer. (PubMed id 11926890)^{1, 9} Rubin M.A....Chinnaiyan A.M. (2002)
alpha-Methylacyl-CoA racemase: expression levels of this novel cancer biomarker depend on tumor differentiation. (PubMed id 12213712)^{1, 9} Kuefer R....Rubin M.A. (2002)
AMACR is associated with advanced pathologic risk fac tors in sporadic colorectal adenomas. (PubMed id 20503447)^{1, 9} Lakis S....Kotoula V. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 23600	HGNC: 451	AceView: AMACR	Ensembl:ENSG00000242110	euGenes: HUgn23600
ECgene: AMACR	Kegg: 23600	H-InvDB: AMACR

(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 AMACR	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for AMACR	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AMACR

Intellectual Property for AMACR gene
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Patent Information for AMACR gene:
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GeneCards and IP:
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alpha-methylacyl-CoA racemase

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AMACR Gene

alpha-methylacyl-CoA racemase

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