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Aliases for PCYT1A Gene

Aliases for PCYT1A Gene

  • Phosphate Cytidylyltransferase 1, Choline, Alpha 2 3 5
  • Phosphate Cytidylyltransferase 1, Choline, Alpha Isoform 2 2
  • CTP:Phosphocholine Cytidylyltransferase A 3 4
  • Phosphorylcholine Transferase A 3 4
  • EC 2.7.7.15 4 58
  • CCT-Alpha 3 4
  • CCT A 3 4
  • PCYT1 3 4
  • CTPCT 3 4
  • CT A 3 4
  • Choline-Phosphate Cytidylyltransferase A 3
  • EC 2.7.7 58
  • SMDCRD 3
  • CCTA 3
  • CTA 3
  • CT 3

External Ids for PCYT1A Gene

Previous HGNC Symbols for PCYT1A Gene

  • PCYT1

Previous GeneCards Identifiers for PCYT1A Gene

  • GC03M191886
  • GC03M196194
  • GC03M197368
  • GC03M197291
  • GC03M197453
  • GC03M195941
  • GC03M193264

Summaries for PCYT1A Gene

Entrez Gene Summary for PCYT1A Gene

  • This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

GeneCards Summary for PCYT1A Gene

PCYT1A (Phosphate Cytidylyltransferase 1, Choline, Alpha) is a Protein Coding gene. Diseases associated with PCYT1A include Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy and Leber Congenital Amaurosis. Among its related pathways are Metabolism and Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics. GO annotations related to this gene include protein homodimerization activity and choline-phosphate cytidylyltransferase activity. An important paralog of this gene is PCYT1B.

UniProtKB/Swiss-Prot for PCYT1A Gene

  • Controls phosphatidylcholine synthesis.

Gene Wiki entry for PCYT1A Gene

Additional gene information for PCYT1A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCYT1A Gene

Genomics for PCYT1A Gene

Regulatory Elements for PCYT1A Gene

Enhancers for PCYT1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H196218 1.7 FANTOM5 Ensembl ENCODE dbSUPER 25 +67.8 67757 2 MXI1 RB1 SIN3A ARID4B MAX BMI1 EBF1 ZIC2 POLR2A FOS PCYT1A ZDHHC19 ENSG00000228028 TFRC SLC51A UBXN7 RNF168 NRROS CEP19 TNK2
GH03H196272 1.2 FANTOM5 ENCODE 31.1 +13.9 13925 3 HDAC1 PKNOX1 ATF1 NFIB ZBTB40 BATF FOS ATF7 RUNX3 CREM PCYT1A TM4SF19 ENSG00000228028 RNU6-910P TCTEX1D2 RNF168 NRROS UBXN7
GH03H196337 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.5 -51.4 -51443 4 HDGF PKNOX1 ATF1 ARNT SIN3A YY1 ZNF766 ELK1 ATF7 FOS TM4SF19 SDHAP1 LINC00969 UBXN7 ENSG00000260261 ENSG00000231443 ENSG00000271662 SDHAP2 PCYT1A UBXN7-AS1
GH03H196277 1.3 Ensembl ENCODE 19.6 +7.8 7759 4 HDGF PKNOX1 ATF1 FOXA2 ARNT ARID4B ZNF766 GATA2 FOS ATF7 PCYT1A SLC51A ENSG00000228028 TM4SF19 RNU6-910P
GH03H196213 1.2 Ensembl ENCODE 18.2 +72.4 72371 3 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 SLC30A9 ZHX2 REST PPARG ZDHHC19 PCYT1A ENSG00000228028 TFRC SLC51A LOC105374304
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCYT1A on UCSC Golden Path with GeneCards custom track

Promoters for PCYT1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164392 357 2401 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for PCYT1A Gene

Chromosome:
3
Start:
196,214,222 bp from pter
End:
196,287,957 bp from pter
Size:
73,736 bases
Orientation:
Minus strand

Genomic View for PCYT1A Gene

Genes around PCYT1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCYT1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCYT1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCYT1A Gene

Proteins for PCYT1A Gene

  • Protein details for PCYT1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49585-PCY1A_HUMAN
    Recommended name:
    Choline-phosphate cytidylyltransferase A
    Protein Accession:
    P49585
    Secondary Accessions:
    • A9LYK9
    • D3DXB1
    • Q86Y88

    Protein attributes for PCYT1A Gene

    Size:
    367 amino acids
    Molecular mass:
    41731 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for PCYT1A Gene

Selected DME Specific Peptides for PCYT1A Gene

P49585:
  • ERSPSPSFRWPFSGKTSP
  • APWTLTPEFL
  • VAHDDIPY
  • WEEKSREFIGSFLEMFGPEGALKHMLKEGKGRMLQAISP
  • STSDIIT
  • FKGFTVMNE
  • CRYVDEV
  • RPVRVYADG

Post-translational modifications for PCYT1A Gene

  • Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation.
  • The serine residues of the C-terminus are phosphorylated. The inactive soluble form is stabilized by phosphorylation, the active membrane bound form is promoted by anionic lipids or diacylglycerol, and is stabilized by dephosphorylation (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PCYT1A Gene

Gene Families for PCYT1A Gene

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

Protein Domains for PCYT1A Gene

Suggested Antigen Peptide Sequences for PCYT1A Gene

Graphical View of Domain Structure for InterPro Entry

P49585

UniProtKB/Swiss-Prot:

PCY1A_HUMAN :
  • Belongs to the cytidylyltransferase family.
Family:
  • Belongs to the cytidylyltransferase family.
genes like me logo Genes that share domains with PCYT1A: view

Function for PCYT1A Gene

Molecular function for PCYT1A Gene

GENATLAS Biochemistry:
CTP phosphocholine cytidyltransferase,42kDa,including 2 isoforms alpha and beta,regulator of phosphatidylcholine
UniProtKB/Swiss-Prot CatalyticActivity:
CTP + phosphocholine = diphosphate + CDP-choline.
UniProtKB/Swiss-Prot EnzymeRegulation:
By phosphorylation.
UniProtKB/Swiss-Prot Function:
Controls phosphatidylcholine synthesis.

Enzyme Numbers (IUBMB) for PCYT1A Gene

Phenotypes From GWAS Catalog for PCYT1A Gene

Gene Ontology (GO) - Molecular Function for PCYT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004105 choline-phosphate cytidylyltransferase activity TAS --
GO:0005516 calmodulin binding IEA --
GO:0008289 lipid binding IEA --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with PCYT1A: view
genes like me logo Genes that share phenotypes with PCYT1A: view

Human Phenotype Ontology for PCYT1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCYT1A Gene

MGI Knock Outs for PCYT1A:

Animal Model Products

  • Taconic Biosciences Mouse Models for PCYT1A

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCYT1A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for PCYT1A Gene

Localization for PCYT1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCYT1A Gene

Cytoplasm, cytosol. Membrane; Peripheral membrane protein. Note=It can interconvert between an inactive cytosolic form and an active membrane-bound form. {ECO:0000250}.

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 PCYT1A gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PCYT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with PCYT1A: view

Pathways & Interactions for PCYT1A Gene

genes like me logo Genes that share pathways with PCYT1A: view

UniProtKB/Swiss-Prot P49585-PCY1A_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 1/2.

SIGNOR curated interactions for PCYT1A Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PCYT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006657 CDP-choline pathway ISS --
GO:0006952 defense response IEA --
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with PCYT1A: view

Drugs & Compounds for PCYT1A Gene

(6) Drugs for PCYT1A Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Target, product of 166
Lamivudine Approved, Investigational Pharma Enzyme, substrate Nucleoside analog reverse transcriptase inhibitor 631
Phosphoric acid Approved Pharma 0
Cytidine triphosphate Experimental Pharma 0
Citicoline Investigational Pharma 0

(15) Additional Compounds for PCYT1A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CMP-N-trimethyl-2-aminoethylphosphonate
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with PCYT1A: view

Transcripts for PCYT1A Gene

Unigene Clusters for PCYT1A Gene

Phosphate cytidylyltransferase 1, choline, alpha:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCYT1A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PCYT1A Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5: - - - - -
SP6: -
SP7:
SP8: - - - -
SP9: -
SP10:

Relevant External Links for PCYT1A Gene

GeneLoc Exon Structure for
PCYT1A
ECgene alternative splicing isoforms for
PCYT1A

Expression for PCYT1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCYT1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCYT1A Gene

This gene is overexpressed in Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for PCYT1A Gene

This gene is overexpressed in Breast (52.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCYT1A Gene



Protein tissue co-expression partners for PCYT1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCYT1A Gene:

PCYT1A

SOURCE GeneReport for Unigene cluster for PCYT1A Gene:

Hs.135997

Evidence on tissue expression from TISSUES for PCYT1A Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Intestine(2.3)
  • Muscle(2.3)
  • Lung(2.2)
  • Skin(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCYT1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
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:
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PCYT1A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PCYT1A Gene

Orthologs for PCYT1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PCYT1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCYT1A 33
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia PCYT1A 33 34
  • 92.46 (n)
cow
(Bos Taurus)
Mammalia PCYT1A 33 34
  • 91.87 (n)
mouse
(Mus musculus)
Mammalia Pcyt1a 33 16 34
  • 89.74 (n)
rat
(Rattus norvegicus)
Mammalia Pcyt1a 33
  • 89.37 (n)
oppossum
(Monodelphis domestica)
Mammalia PCYT1A 34
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCYT1A 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCYT1A 33 34
  • 80.6 (n)
lizard
(Anolis carolinensis)
Reptilia PCYT1A 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcyt1a 33
  • 76.2 (n)
Str.1627 33
African clawed frog
(Xenopus laevis)
Amphibia pcyt1a-prov 33
zebrafish
(Danio rerio)
Actinopterygii pcyt1ab 34
  • 75 (a)
OneToMany
pcyt1aa 33 34
  • 73.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cct1 35 33 34
  • 63.21 (n)
Cct2 35 34
  • 57 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002263 33
  • 56.61 (n)
worm
(Caenorhabditis elegans)
Secernentea Y18H1A.11 33 34
  • 54 (n)
F08C6.2 35
  • 47 (a)
F28A10.10 35 34
  • 46 (a)
pcyt-1 34
  • 37 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCT1 34
  • 31 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5008 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9202 34
  • 54 (a)
OneToMany
Species where no ortholog for PCYT1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PCYT1A Gene

ENSEMBL:
Gene Tree for PCYT1A (if available)
TreeFam:
Gene Tree for PCYT1A (if available)

Paralogs for PCYT1A Gene

Paralogs for PCYT1A Gene

genes like me logo Genes that share paralogs with PCYT1A: view

Variants for PCYT1A Gene

Sequence variations from dbSNP and Humsavar for PCYT1A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs540053239 Pathogenic, Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] 196,241,987(+) TAGCC(C/G/T)CTCTG reference, synonymous-codon, missense
rs587777189 Pathogenic, Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] 196,248,245(+) TCTTC(A/G)CTTGC reference, missense
rs587777190 Pathogenic, Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] 196,247,405(+) CCAGG(C/G)CGCAT reference, missense
rs587777191 Pathogenic, Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] 196,248,246(+) CTTCG(C/T)TTGCA reference, missense
rs587777194 Pathogenic, Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] 196,247,468(+) ATTCT(C/T)GTTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PCYT1A Gene

Variant ID Type Subtype PubMed ID
dgv2689n106 CNV duplication 24896259
esv2658720 CNV deletion 23128226
esv2759213 CNV gain+loss 17122850
esv3330620 CNV duplication 20981092
esv3341217 CNV duplication 20981092
esv3599276 CNV loss 21293372
esv3599277 CNV gain 21293372
esv3599278 CNV gain 21293372
esv3599279 CNV gain 21293372
nsv1008512 CNV gain 25217958
nsv1009811 CNV gain 25217958
nsv1117050 CNV deletion 24896259
nsv1146811 CNV duplication 26484159
nsv518925 CNV loss 19592680
nsv593071 CNV gain 21841781
nsv950310 CNV duplication 24416366
nsv997797 CNV gain 25217958

Variation tolerance for PCYT1A Gene

Residual Variation Intolerance Score: 50.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCYT1A Gene

Human Gene Mutation Database (HGMD)
PCYT1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCYT1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCYT1A Gene

Disorders for PCYT1A Gene

MalaCards: The human disease database

(4) MalaCards diseases for PCYT1A Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PCY1A_HUMAN
  • Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]: A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. {ECO:0000269 PubMed:24387990, ECO:0000269 PubMed:24387991}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PCYT1A

Genetic Association Database (GAD)
PCYT1A
Human Genome Epidemiology (HuGE) Navigator
PCYT1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCYT1A
genes like me logo Genes that share disorders with PCYT1A: view

No data available for Genatlas for PCYT1A Gene

Publications for PCYT1A Gene

  1. Primary structure and expression of a human CTP:phosphocholine cytidylyltransferase. (PMID: 7918629) Kalmar GB … Cornell RB (Biochimica et biophysica acta 1994) 2 3 4 60
  2. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. (PMID: 24387991) Yamamoto GL … Bertola DR (American journal of human genetics 2014) 3 4 60
  3. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. (PMID: 24387990) Hoover-Fong J … Pauli RM (American journal of human genetics 2014) 3 4 60
  4. Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts. (PMID: 20662904) Mostowska A … Jagodzinski PP (European journal of oral sciences 2010) 3 45 60
  5. Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. (PMID: 19737740) Mostowska A … Jagodzinski PP (Journal of medical genetics 2010) 3 45 60

Products for PCYT1A Gene

Sources for PCYT1A Gene

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