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Aliases for PCCB Gene

Aliases for PCCB Gene

  • Propionyl-CoA Carboxylase Beta Subunit 2 3 5
  • EC 6.4.1.3 4 56
  • Propionyl Coenzyme A Carboxylase, Beta Polypeptide 2
  • Propanoyl-CoA:Carbon Dioxide Ligase Subunit Beta 4
  • PCCase Subunit Beta 4

External Ids for PCCB Gene

Previous GeneCards Identifiers for PCCB Gene

  • GC03U990060
  • GC03P136720
  • GC03P137250
  • GC03P137290
  • GC03P137451
  • GC03P135969
  • GC03P133346

Summaries for PCCB Gene

Entrez Gene Summary for PCCB Gene

  • The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

GeneCards Summary for PCCB Gene

PCCB (Propionyl-CoA Carboxylase Beta Subunit) is a Protein Coding gene. Diseases associated with PCCB include Propionic Acidemia and Biotinidase Deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include ligase activity and propionyl-CoA carboxylase activity. An important paralog of this gene is MCCC2.

Additional gene information for PCCB Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCCB Gene

Genomics for PCCB Gene

GeneHancer (GH) Regulatory Elements for PCCB Gene

Promoters and enhancers for PCCB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I136248 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.7 -0.1 -108 4.2 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 IRF4 PCCB IL20RB MSL2 RPL31P23
GH03I136191 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 29 -55.3 -55290 7.1 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D ZNF610 GLIS1 MSL2 PCCB NCK1 IL20RB NCK1-AS1 GC03P136156
GH03I136349 Enhancer 0.7 Ensembl ENCODE 27.2 +100.6 100550 2.2 CTCF JUND POLR2A CEBPB FOS PCCB IL20RB STAG1 ENSG00000261758 ENSG00000273486 RNU6-1284P GC03M136431
GH03I136186 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.8 -63.8 -63805 0.6 ELF3 TFAP4 ZNF792 SAP130 ARID4B CEBPG KMT2B RAD21 TEAD3 POLR2A PCCB ENSG00000273486 MSL2 GC03P136156
GH03I136170 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 15 -78.6 -78603 3 MAFG ATF2 PRDM6 ZNF316 ATF4 NFE2 ZNF600 EMSY NFE2L2 PCCB NCK1-AS1 IL20RB GC03P136156 MSL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCCB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCCB gene promoter:

Genomic Locations for PCCB Gene

Genomic Locations for PCCB Gene
chr3:136,250,306-136,337,896
(GRCh38/hg38)
Size:
87,591 bases
Orientation:
Plus strand
chr3:135,969,148-136,056,738
(GRCh37/hg19)

Genomic View for PCCB Gene

Genes around PCCB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCCB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCCB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCCB Gene

Proteins for PCCB Gene

  • Protein details for PCCB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05166-PCCB_HUMAN
    Recommended name:
    Propionyl-CoA carboxylase beta chain, mitochondrial
    Protein Accession:
    P05166
    Secondary Accessions:
    • B7Z2Z4
    • Q16813
    • Q96CX0

    Protein attributes for PCCB Gene

    Size:
    539 amino acids
    Molecular mass:
    58216 Da
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.

    Alternative splice isoforms for PCCB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCCB Gene

Selected DME Specific Peptides for PCCB Gene

P05166:
  • GKLTARERI
  • ECHDPSDRLVPELDT
  • TVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNV
  • VFSQDFTVFGGSL
  • GFARMNGRTVGIVGNQP
  • ESDMFVEHRCADFGMAA
  • SVNERIENKR
  • RKAYGGAY
  • GDTNYAWPTAEIAVMGAKGAVEIIFKGH
  • NDVDALCNLR
  • VYSPALTDF
  • SGVIPQIS
  • VKSVTNEDVTQE
  • RPWRKHAN
  • EKFANPFPAAVRGFVDDIIQPSSTRARICCDL

Post-translational modifications for PCCB Gene

No Post-translational modifications

Domains & Families for PCCB Gene

Gene Families for PCCB Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P05166

UniProtKB/Swiss-Prot:

PCCB_HUMAN :
  • Belongs to the AccD/PCCB family.
Family:
  • Belongs to the AccD/PCCB family.
genes like me logo Genes that share domains with PCCB: view

Function for PCCB Gene

Molecular function for PCCB Gene

GENATLAS Biochemistry:
propionyl-CoA carboxylase,beta polypeptide,biotin-dependent,mitochondrial conversion of propionyl CoA TO methylmalonyl CoA,branched chain valine,isoleucine catabolism,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA.

Enzyme Numbers (IUBMB) for PCCB Gene

Phenotypes From GWAS Catalog for PCCB Gene

Gene Ontology (GO) - Molecular Function for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003989 acetyl-CoA carboxylase activity IEA --
GO:0004658 propionyl-CoA carboxylase activity IEA,TAS --
GO:0005515 protein binding IPI 20725044
GO:0005524 ATP binding IEA --
GO:0016421 CoA carboxylase activity IBA --
genes like me logo Genes that share ontologies with PCCB: view
genes like me logo Genes that share phenotypes with PCCB: view

Human Phenotype Ontology for PCCB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCCB Gene

MGI Knock Outs for PCCB:
  • Pccb tm1.1(KOMP)Vlcg

miRNA for PCCB Gene

miRTarBase miRNAs that target PCCB

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for PCCB Gene

Localization for PCCB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCCB Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCCB gene
Compartment Confidence
mitochondrion 5
cytosol 4

Gene Ontology (GO) - Cellular Components for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 8188292
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
GO:0009317 acetyl-CoA carboxylase complex IEA --
genes like me logo Genes that share ontologies with PCCB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCCB Gene

Pathways & Interactions for PCCB Gene

genes like me logo Genes that share pathways with PCCB: view

UniProtKB/Swiss-Prot P05166-PCCB_HUMAN

  • Pathway: Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.

Gene Ontology (GO) - Biological Process for PCCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006768 biotin metabolic process TAS --
GO:0009062 fatty acid catabolic process IBA --
GO:0019626 short-chain fatty acid catabolic process TAS --
genes like me logo Genes that share ontologies with PCCB: view

No data available for SIGNOR curated interactions for PCCB Gene

Drugs & Compounds for PCCB Gene

(5) Drugs for PCCB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra Target 53
L-Valine Approved Nutra Target, Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Propanoyl-CoA Experimental Pharma 0
ATP Investigational Nutra Agonist 0

(7) Additional Compounds for PCCB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
Methylmalonyl-CoA
  • (R)-methylmalonyl-CoA
  • (R)-methylmalonyl-Coenzyme A
  • (S)-2-Methyl-3-Oxopropanoyl-Coa
  • (S)-methyl-malonyl-CoA
  • (S)-methyl-malonyl-Coenzyme A
104809-02-1
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
S-Methylmalonyl-CoA
  • (S)-Methylmalonyl-CoA
  • (S)-Methylmalonyl-Coenzyme A
73173-91-8
genes like me logo Genes that share compounds with PCCB: view

Transcripts for PCCB Gene

Unigene Clusters for PCCB Gene

Propionyl CoA carboxylase, beta polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCCB Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - -
SP10: - -
SP11: - - - - -
SP12: - - - -
SP13: - - - - -
SP14: - - - - - - - - - - - - - - - - - -
SP15: -
SP16: -

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: -
SP2:
SP3: -
SP4: -
SP5: -
SP6: - -
SP7: -
SP8: -
SP9: -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for PCCB Gene

GeneLoc Exon Structure for
PCCB
ECgene alternative splicing isoforms for
PCCB

Expression for PCCB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCCB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCCB Gene

This gene is overexpressed in Liver (x4.6) and Adrenal Gland (x4.2).

Protein differential expression in normal tissues from HIPED for PCCB Gene

This gene is overexpressed in Kidney (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCCB Gene



Protein tissue co-expression partners for PCCB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCCB Gene:

PCCB

SOURCE GeneReport for Unigene cluster for PCCB Gene:

Hs.63788

Evidence on tissue expression from TISSUES for PCCB Gene

  • Nervous system(4.9)
  • Kidney(4.5)
  • Liver(4.5)
  • Blood(4.3)
  • Pancreas(4.2)
  • Skin(4.2)
  • Adrenal gland(2.4)
  • Gall bladder(2.4)
  • Intestine(2.4)
  • Stomach(2.4)
  • Thyroid gland(2.4)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCCB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PCCB: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PCCB Gene

Orthologs for PCCB Gene

This gene was present in the common ancestor of animals.

Orthologs for PCCB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCCB 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia PCCB 33 34
  • 91.78 (n)
cow
(Bos Taurus)
Mammalia PCCB 33 34
  • 91.52 (n)
mouse
(Mus musculus)
Mammalia Pccb 33 16 34
  • 87.51 (n)
rat
(Rattus norvegicus)
Mammalia Pccb 33
  • 87.2 (n)
oppossum
(Monodelphis domestica)
Mammalia PCCB 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCCB 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCCB 33 34
  • 77.65 (n)
lizard
(Anolis carolinensis)
Reptilia PCCB 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pccb 33
  • 75 (n)
Str.11522 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68650 33
zebrafish
(Danio rerio)
Actinopterygii pccb 33 34
  • 73.6 (n)
Dr.11518 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9703 33
worm
(Caenorhabditis elegans)
Secernentea F52E4.1a 35
  • 75 (a)
F52E4.1b 35
  • 75 (a)
pccb-1 33 34
  • 67.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11978 33
Species where no ortholog for PCCB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCCB Gene

ENSEMBL:
Gene Tree for PCCB (if available)
TreeFam:
Gene Tree for PCCB (if available)

Paralogs for PCCB Gene

Paralogs for PCCB Gene

genes like me logo Genes that share paralogs with PCCB: view

Variants for PCCB Gene

Sequence variations from dbSNP and Humsavar for PCCB Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1039491317 likely-benign, Propionic acidemia 136,250,565(+) C/G/T intron_variant
rs111033542 pathogenic, Propionic acidemia, Propionic acidemia type II (PA-2) [MIM:606054] 136,327,239(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs115533065 uncertain-significance, Propionic acidemia 136,330,117(+) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs121964959 likely-benign, pathogenic, Propionic acidemia, Propionic acidemia type II (PA-2) [MIM:606054] 136,327,184(+) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, synonymous_variant
rs121964960 pathogenic, Propionic acidemia, Propionic acidemia type II (PA-2) [MIM:606054] 136,262,024(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PCCB Gene

Variant ID Type Subtype PubMed ID
dgv129n73 CNV deletion 24416366
dgv1409e212 CNV gain 25503493
dgv1410e212 CNV gain 25503493
dgv1411e212 CNV loss 25503493
dgv2607n106 CNV deletion 24896259
dgv303e215 CNV deletion 23714750
dgv37n50 CNV loss 21212237
dgv8611n54 CNV gain 21841781
dgv8612n54 CNV gain+loss 21841781
dgv8613n54 CNV loss 21841781
dgv8614n54 CNV loss 21841781
esv1003652 CNV gain 20482838
esv1521994 CNV deletion 17803354
esv22097 CNV gain+loss 19812545
esv2662772 CNV deletion 23128226
esv2665912 CNV deletion 23128226
esv2725956 CNV deletion 23290073
esv2725957 CNV deletion 23290073
esv3562597 CNV deletion 23714750
esv3562598 CNV deletion 23714750
esv3569016 CNV loss 25503493
esv3597886 CNV loss 21293372
esv3597887 CNV loss 21293372
esv3597888 CNV loss 21293372
esv9585 CNV loss 19470904
nsv1073251 CNV deletion 25765185
nsv1109548 CNV deletion 24896259
nsv1125235 CNV insertion 24896259
nsv237910 CNV deletion 16902084
nsv4025 CNV deletion 18451855
nsv508246 CNV deletion 20534489
nsv514170 CNV loss 21397061
nsv591834 CNV gain 21841781
nsv591840 CNV loss 21841781
nsv591848 CNV loss 21841781
nsv591849 CNV loss 21841781
nsv821587 CNV deletion 20802225

Variation tolerance for PCCB Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCCB Gene

Human Gene Mutation Database (HGMD)
PCCB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCCB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCCB Gene

Disorders for PCCB Gene

MalaCards: The human disease database

(8) MalaCards diseases for PCCB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
propionic acidemia
  • propionyl-coa carboxylase deficiency
biotinidase deficiency
  • btd deficiency
multiple carboxylase deficiency
  • mcd
biotin deficiency
  • b7 deficiency
organic acidemia
  • organic acid metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search PCCB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCCB_HUMAN
  • Propionic acidemia type II (PA-2) [MIM:606054]: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. {ECO:0000269 PubMed:10447268, ECO:0000269 PubMed:11749052, ECO:0000269 PubMed:12189489, ECO:0000269 PubMed:12559849, ECO:0000269 PubMed:15059621, ECO:0000269 PubMed:2154743, ECO:0000269 PubMed:8411997, ECO:0000269 PubMed:9683601}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PCCB Gene

hyperglycinemia,ketotic,propionic acidemia B

Additional Disease Information for PCCB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PCCB: view

Publications for PCCB Gene

  1. Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts. (PMID: 20031576) Dehghan A … Folsom AR (Circulation. Cardiovascular genetics 2009) 3 22 44 58
  2. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID: 15059621) Yang X … Ohura T (Molecular genetics and metabolism 2004) 3 4 22 58
  3. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PMID: 12559849) Pérez B … Ugarte M (Molecular genetics and metabolism 2003) 3 4 22 58
  4. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. (PMID: 12189489) Yorifuji T … Nakahata T (Human genetics 2002) 3 4 22 58
  5. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PMID: 11749052) Muro S … Ugarte M (Molecular genetics and metabolism 2001) 3 4 22 58

Products for PCCB Gene

  • Addgene plasmids for PCCB

Sources for PCCB Gene

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