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PCCA Gene

protein-coding GIFtS: 60

GC13P099539

propionyl Coenzyme A carboxylase, alpha polypeptide
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
EC 6.4.1.3 ^³
OTTHUMP00000018635 ^²

Descriptions
PCCase alpha subunit ^²
PCCase subunit alpha ^³
Propanoyl-CoA:carbon dioxide ligase subunit alpha ^³
pccA complementation group ^²
propanoyl-CoA:carbon dioxide ligase alpha subunit ^²
propionyl Coenzyme A carboxylase, alpha polypeptide ^²
propionyl-CoA carboxylase alpha chain, mitochondrial ^²
propionyl-Coenzyme A carboxylase, alpha polypeptide ^²

External Ids
HGNC: 8653¹
Entrez Gene: 5095²
UniProtKB: P05165³
Ensembl: ENSG00000175198⁷

Search outside databases for aliases for PCCA gene

Previous GC identifers: GC13P099101 GC13P095128 GC13P099577 GC13P098439

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for PCCA:

The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme

Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in

either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in

propionic acidemia. Two transcript variants encoding different isoforms have been found for this

gene. [provided by RefSeq]

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the PCCA gene

Entrez Gene cytogenetic band: 13q32 Ensembl cytogenetic band: 13q32.3 HGNC cytogenetic band: 13q32

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

GeneLoc gene densities for chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13P099539: (about GC identifiers)

Start:	99,539,338 bp from pter
End:	99,980,690 bp from pter
Size:	441,353 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000013.9 NT_009952.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: PCCA_HUMAN, P05165 (See protein sequence)

Recommended Name: Propionyl-CoA carboxylase alpha chain, mitochondrial precursor

Size: 703 amino acids; 77354 Da

Cofactor: Biotin

Subunit: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta

subunits

Subcellular location: Mitochondrion matrix

Sequence caution: Sequence=AAA60035.1; Type=Frameshift; Positions=349, 353, 355, 366;

PDB structure from and Proteopedia :

2CQY (3D)

2JKU (3D)

Secondary accessions: Q15979

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000273.2 NP_001121164.1

ENSEMBL proteins:

ENSP00000365430 ENSP00000365454 ENSP00000365456 ENSP00000365463 ENSP00000365462

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (PCCA)
	Human Recombinant Proteins from Abnova (PCCA)

OriGene Purified Recombinant Human Protein: PCCA

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--
GO:0005759	mitochondrial matrix	IEA	--

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Antibodies for PCCA:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for PCCA
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (PCCA), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (PCCA)
	Novus Biologicals Antibodies for PCCA

Assays for PCCA:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P05165

ProtoNet protein and cluster: P05165

2 Blocks protein families:

IPB000089 Biotin/lipoyl attachment

IPB001882 Biotin-requiring enzyme

UniProtKB/Swiss-Prot: PCCA_HUMAN, P05165

Similarity: Contains 1 ATP-grasp domain

Similarity: Contains 1 biotin carboxylation domain

Similarity: Contains 1 biotinyl-binding domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PCCA)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000282

Applied Biosystems Silencer® siRNAs for PCCA

Sigma-Aldrich siRNA and siRNA Panels for PCCA

Sigma-Aldrich shRNA for PCCA

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for PCCA
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000282
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000282
untagged cDNA clones in CMV expression vector (see all 4): AF385926

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000282

UniProtKB/Swiss-Prot: PCCA_HUMAN, P05165

Catalytic activity: ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA

Enzyme Number (IUBMB): EC 6.4.1.3

Genatlas biochemistry entry for PCCA:

propionyl-CoA carboxylase,alpha polypeptide,biotin-dependent,mitochondrial conversion of propionyl

CoA to methylmalonyl CoA,branched chain valine,isoleucine catabolism,energy pathway

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

behavior/neurological

homeostasis/metabolism

lethality-postnatal

liver/biliary system

renal/urinary system

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004658	propionyl-CoA carboxylase activity	TAS	3460076
GO:0005524	ATP binding	IEA	--
GO:0009374	biotin binding	TAS	3460076
GO:0016874	ligase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for PCCA (Your Favorite Gene powered by Ingenuity)

Valine, Leucine and Isoleucine Degradation
Propanoate Metabolism

GeneDecks PCCA for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: PCCA_HUMAN, P05165

Pathway: Metabolic intermediate metabolism; propionyl-CoA degradation; succinyl-CoA from

propionyl-CoA: step 1/3

5/20 Interacting proteins for PCCA (ENSP00000365463³ P05165²) via UniProtKB, MINT, and/or STRING (see all 20 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PCCB	ENSP00000251654³	STRING (score=.999)
MCEE	ENSP00000244217³	STRING (score=.972)
ACAA2	ENSP00000285093³	STRING (score=.952)
ACSS2	ENSP00000363825³	STRING (score=.913)
ACADM	ENSP00000359871³	STRING (score=.902)

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1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008152	metabolic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for PCCA
4 Novoseek chemical compound relationships for PCCA gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pcca	99.36	91	8434582 (6), 12559849 (6), 15464417 (6), 19099776 (5) (see all 32)
propionyl coa	89.08	2	8434582 (1), 15949719 (1)
lysine	15.45	1	15748688 (1)
atp	0.00	2	15464417 (1), 12385775 (1)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PCCA)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000282

Sigma-Aldrich siRNA and siRNA Panels for PCCA

Sigma-Aldrich shRNA for PCCA

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000282 NM_001127692

REFSEQ mRNAs for PCCA gene (2 alternative transcripts):

NM_000282.2 NM_001127692.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000282 NM_001127692

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000282
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000282
                                 untagged cDNA clones in CMV expression vector (see all 4): AF385926

Additional cDNA sequence:

AF339804.1 AF385926.1 AK027256.1 AK055982.1 AK225288.1 AK225299.1 AK296771.1 AK298318.1

AK315503.1 AL122056.1 BC000140.2 CR620827.1 M13572.1 M26121.1 S79219.1 X14608.1

Z36837.1

24/25 DOTS entries (see all 25 ):

DT.116089 DT.92062413 DT.305424 DT.120792988 DT.120793019 DT.75153041 DT.100023746 DT.97845441

DT.75183769 DT.100749664 DT.120792882 DT.75158993 DT.92450626 DT.95076014 DT.100749665 DT.95076009

DT.100024251 DT.100803162 DT.102840884 DT.120793006 DT.91950617 DT.92004361 DT.92450630 DT.92450638

24/210 AceView cDNA sequences (see all 210 ):

BE047731 AI018725 AW631306 BP374134 BG315549 CA423971 BQ029477 BM783167

AK027256 BU688930 AI065036 AL122056 CA437126 BM669583 S55656 BE302246

AA481881 AA243068 AI801264 CA423534 CR620827 BG426535 AA333325 AW473129

highest scoring ESTs for PCCA:

S79219 X14608 AA131070 AA454546 AA477467 AA481881 AA482063 AA535254 AA551867 AA608575

Unigene Cluster for PCCA:

Propionyl Coenzyme A carboxylase, alpha polypeptide

Hs.80741 [show with all ESTs]

Unigene Representative Sequence: AL122056

GeneLoc Exon Structure

5 Ensembl transcripts including schematic representations:

ENST00000376254 ENST00000376277 ENST00000376279 ENST00000376286 ENST00000376285

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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PCCA expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for PCCA

¹ / ² / ³

4 probe-sets matching PCCA gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1348_s_at²^{, 3}	U95-A	1	1.00	1.00	0.97	1.07	S79219	1.00	1.00	1.00	1
37593_at²^{, 3}	U95-A	1	0.38	1.00	0.92	0.93	X14608	1.00	1.00	1.00	1
203860_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000282	0.60	1.00	0.82	1
203860_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks PCCA for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
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CGAP SAGE TAG: ATGCTTTCAC

SOURCE GeneReport for Unigene cluster: Hs.80741
Expression variation in blood from EXPOLDB for PCCA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for PCCA gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PCCA¹	--	propionyl Coenzyme A carboxylase, alpha polypeptide	92.4(n) 91.21(a)	476975 XM_855225.1 XP_860318.1
chimpanzee (Pan troglodytes)	PCCA¹	--	propionyl Coenzyme A carboxylase, alpha polypeptide	99.5(n) 99.59(a)	738775 XM_001148931.1 XP_001148931.1
cow (Bos taurus)	PCCA¹	--	propionyl Coenzyme A carboxylase, alpha polypeptide	89.57(n) 88.94(a)	614302 XM_865752.2 XP_870845.2
mouse (Mus musculus)	Pcca⁵ Pcca¹	14 (64.00 cM)⁵	propionyl-Coenzyme A carboxylase, alpha polypeptide^{1, 5}	86.69(n)¹ 89.64(a)¹	110821¹ NM_144844.1¹ NP_659093.1¹ AI315552⁵ AI788609⁵ (see all 23)
chicken (Gallus gallus)	PCCA¹	--	propionyl Coenzyme A carboxylase, alpha polypeptide	81.93(n) 84.01(a)	418774 XM_416970.2 XP_416970.2

About this table Species with no ortholog for PCCA

ENSEMBL Gene Tree for PCCA

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for PCCA gene

PC²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/2211 NCBI SNPs in PCCA are shown (see all 2211 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 588)

AB	SNP ID	Valid	Chr 13 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs16957356^1,2	C,F,H	99818828(+)	`GTTCTC/TGGTGA`	2	S/L	mis¹		11	NA EU EA WA	980
	rs538229^1,2	C,F,H,O	99686123(-)	`TCCCTT/CGCAAT`	2	A/A	syn¹ ese³		9	MN NA EU EA WA	816
	rs2390383^1,2	A,C,F,H,O	99772099(+)	`GAGTCC/AGGAAC`	1	--	int¹		15	EU EA WA NA	1334
	rs945884^1,2	A,C,F,H,O	99660965(+)	`CCTTGC/AGATTT`	1	--	int¹		13	NA EA MN EU WA	1173
	rs1000160^1,2	A,C,F,H,O	99748453(+)	`TTCCAC/TTTTGT`	1	--	int¹		15	NA EA MN EU WA	1540
	rs681561^1,2	A,C,F,H,O	99696530(+)	`CTGCTC/ATGATT`	1	--	int¹		11	EU EA WA NA	922
	rs1297355^1,2	A,C,F,H,O	99912767(+)	`AGGCTC/TATATA`	1	--	int¹		7	EU EA WA NA	554
	rs2760308^1,2	A,C,F,H,O	99852112(+)	`TATCTA/GACAAC`	1	--	int¹		10	NA EA EU WA	803
	rs2390465^1,2	A,C,F,H,O	99789706(+)	`GTCAAG/AGGATG`	1	--	int¹		8	NA EA EU WA	1336
	rs2893018^1,2	A,C,F,H,O	99678668(+)	`TTAACA/TGAGTT`	1	--	int¹		7	EU EA WA NA	554

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HapMap Linkage Disequilibrium images for PCCA (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 232000 disorders: 606054

UniProtKB/Swiss-Prot: PCCA_HUMAN, P05165

Defects in PCCA are the cause of propionic acidemia type I (PA-1) [MIM:606054]. PA-1 is a

life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia,

periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to

protein

5 Novoseek disease relationships for PCCA gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
propionic acidemia	97.93	22	9385377 (2), 12385775 (2), 15059621 (2), 18790721 (2) (see all 18)
ketotic hyperglycinemia	90.01	1	9385377 (1)
metabolic disorder	61.81	4	9683601 (1), 8188292 (1), 11749052 (1), 10101253 (1)
enzyme deficiency	53.83	2	8434582 (1), 15059621 (1)
cancer	0.00	2	9311592 (1)

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Genatlas disease: PCCA

hyperglycinemia,ketotic,propionic acidemia A

Human Gene Mutation Database: PCCA

(Possibly Related Articles in Doctor's Guide)
About This Section

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

19/53 PubMed articles for PCCA gene (see all 53 ):

Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts. (PubMed id 8434582)^{1, 3, 4} Stankovics J. and Ledley F.D. (1993)
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PubMed id 12559849)^{1, 3, 4} Perez B.... Ugarte M. (2003)
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PubMed id 15059621)^{1, 3, 4} Yang X.... Ohura T. (2004)
Genetic heterogeneity in propionic acidemia patients with alpha- subunit defects: identification of five novel mutations, one of them causing instability of the protein. (PubMed id 10101253)^{1, 3, 4} Richard E.... Ugarte M. (1999)
Assignment of the human gene propionyl coenzyme A carboxylase, alpha-chain, (PCCA) to chromosome 13q32 by in situ hybridization. (PubMed id 1427880)^{1, 2, 3} Kennerknecht I....Hameister H. (1992)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. (PubMed id 10502773)^{3, 4} Ugarte M.... Gravel R.A. (1999)
Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. (PubMed id 10329019)^{3, 4} Campeau E.... Gravel R. (1999)
Human mitochondrial propionyl-CoA carboxylase: localization of the N- terminus of the pro- and mature alpha chains in the deduced primary sequence of a full-length cDNA. (PubMed id 2740237)^{3, 4} Lamhonwah A.-M.... Gravel R.A. (1989)
Sequence homology around the biotin-binding site of human propionyl- CoA carboxylase and pyruvate carboxylase. (PubMed id 3555348)^{3, 4} Lamhonwah A.-M.... Gravel R.A. (1987)
Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes. (PubMed id 3460076)^{3, 4} Lamhonwah A.-M.... Gravel R.A. (1986)
Functional characterization of PCCA mutations causing propionic acidemia. (PubMed id 12385775)^{1, 3} Clavero S....Desviat L.R. (2002)
Structure of the PCCA gene and distribution of mutations causing propionic acidemia. (PubMed id 11592820)^{1, 3} Campeau E....Gravel R.A. (2001)
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. (PubMed id 19157943)³ Desviat L.R....Ugarte M. (2009)
Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group. (PubMed id 3687944)³ Lamhonwah A.M. and Gravel R.A. (1987)
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients. (PubMed id 9385377)¹ Richard E....Ugarte M. (1997)
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia. (PubMed id 18790721)¹ Kaya N....Ozand P. (2008)
Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits. (PubMed id 11914040)¹ Rodriguez-Pombo P....Rodriguez-Pombo P. (2002)
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. (PubMed id 9887338)¹ Campeau E....Gravel R.A. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Search String
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 5095	HGNC: 8653	AceView: PCCA	Ensembl:ENSG00000175198	euGenes: HUgn5095
ECgene: PCCA	H-InvDB: PCCA

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=PCCA

Licensable Technologies for PCCA
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for PCCA:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for PCCA-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

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

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (PCCA)
	Antibodies (PCCA)
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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Antibodies for PCCA

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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PCCA Gene

protein-coding GIFtS: 60

Aliases &
Descriptions
for PCCA

Summaries
for PCCA

Genomic Location
for PCCA

Proteins
for PCCA

Protein Domains/
Families
for PCCA

Gene Function
for PCCA

Pathways & Interactions
for PCCA

Drugs & Compounds
for PCCA

Transcripts
for PCCA

Expression
for PCCA

Orthologs
for PCCA

Paralogs
for PCCA

SNPs/Variants
for PCCA

Disorders & Mutations
for PCCA

Medical News
for PCCA

Publications
for PCCA

Search for PCCA

Genome Databases showing PCCA

Other Databases showing PCCA

Specialized Databases showing PCCA

Licensable Technologies
for PCCA

Services
for PCCA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PCCA Gene

protein-coding GIFtS: 60

Aliases & Descriptionsfor PCCA

Summariesfor PCCA

Genomic Locationfor PCCA

Proteinsfor PCCA

Protein Domains/Familiesfor PCCA

Gene Functionfor PCCA

Pathways & Interactionsfor PCCA

Drugs & Compoundsfor PCCA

Transcriptsfor PCCA

Expression for PCCA

Orthologsfor PCCA

Paralogsfor PCCA

SNPs/Variantsfor PCCA

Disorders & Mutationsfor PCCA

Medical Newsfor PCCA

Publicationsfor PCCA

Search for PCCA

Genome Databases showing PCCA

Other Databases showing PCCA

Specialized Databases showing PCCA

Licensable Technologiesfor PCCA

Servicesfor PCCA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for PCCA

Summaries
for PCCA

Genomic Location
for PCCA

Proteins
for PCCA

Protein Domains/
Families
for PCCA

Gene Function
for PCCA

Pathways & Interactions
for PCCA

Drugs & Compounds
for PCCA

Transcripts
for PCCA

Expression
for PCCA

Orthologs
for PCCA

Paralogs
for PCCA

SNPs/Variants
for PCCA

Disorders & Mutations
for PCCA

Medical News
for PCCA

Publications
for PCCA

Licensable Technologies
for PCCA

Services
for PCCA