Aliases for PRKCSH Gene
Aliases for PRKCSH Gene
- Protein Kinase C Substrate 80K-H 2 3 5
- Protein Kinase C Substrate 60.1 KDa Protein Heavy Chain 3 4
- Advanced Glycation End-Product Receptor 2 2 3
- Glucosidase II Subunit Beta 3 4
- Glucosidase 2 Subunit Beta 2 3
- Hepatocystin 2 3
- G19P1 3 4
- PKCSH 3 4
- Protein Kinase C Substrate, 80 Kda Protein 3
- Glucosidase II Beta Subunit 2
External Ids for PRKCSH Gene
- HGNC: 9411
- Entrez Gene: 5589
- Ensembl: ENSG00000130175
- OMIM: 177060
- UniProtKB: P14314
Previous HGNC Symbols for PRKCSH Gene
- G19P1
- PCLD
- PLD1
Previous GeneCards Identifiers for PRKCSH Gene
- GC19P011677
- GC19P011769
- GC19P011391
- GC19P011407
- GC19P011546
- GC19P011121
Summaries for PRKCSH Gene
-
This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
GeneCards Summary for PRKCSH Gene
PRKCSH (Protein Kinase C Substrate 80K-H) is a Protein Coding gene. Diseases associated with PRKCSH include Polycystic Liver Disease 1 With Or Without Kidney Cysts and Polycystic Liver Disease. Among its related pathways are Advanced glycosylation endproduct receptor signaling and Calnexin/calreticulin cycle. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ion channel binding.
UniProtKB/Swiss-Prot for PRKCSH Gene
-
Regulatory subunit of glucosidase II.
Additional gene information for PRKCSH Gene
- Monarch Initiative
- Search for PRKCSH at DataMed
- Search for PRKCSH at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKCSH Gene
Genomics for PRKCSH Gene
GeneHancer (GH) Regulatory Elements for PRKCSH Gene
Promoters and enhancers for PRKCSH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PRKCSH on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PRKCSH gene promoter:
-
- MRF-2
- ER-alpha
- Pax-5
- GATA-3
- USF-1
- USF1
- Hlf
- CREB
- deltaCREB
- AP-2alpha
Regulatory Element Products
Genomic Locations for PRKCSH Gene
Genomic Locations for PRKCSH Gene
- chr19:11,435,257-11,450,968
- (GRCh38/hg38)
- Size:
- 15,712 bases
- Orientation:
- Plus strand
- chr19:11,546,109-11,561,783
- (GRCh37/hg19)
- Size:
- 15,675 bases
- Orientation:
- Plus strand
Genomic View for PRKCSH Gene
Genes around PRKCSH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.2 by Entrez Gene
- 19p13.2 by HGNC
- 19p13.2 by Ensembl
PRKCSH Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PRKCSH Gene
Proteins for PRKCSH Gene
-
Protein details for PRKCSH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P14314-GLU2B_HUMAN
- Recommended name:
- Glucosidase 2 subunit beta
- Protein Accession:
- P14314
- A8K318
- Q96BU9
- Q96D06
- Q9P0W9
Protein attributes for PRKCSH Gene
- Size:
- 528 amino acids
- Molecular mass:
- 59425 Da
- Quaternary structure:
-
- Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC (By similarity).
- SequenceCaution:
-
- Sequence=AAH15154.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for PRKCSH Gene
Post-translational modifications for PRKCSH Gene
Other Protein References for PRKCSH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PRKCSH
- Novus Biologicals Antibodies for PRKCSH
-
Abcam antibodies for PRKCSH
- Invitrogen Antibodies for PRKCSH (AFLGC-PRKCSH)
- GeneTex PRKCSH Antibody for PRKCSH
-
Boster Bio Antibodies for PRKCSH
-
Santa Cruz Biotechnology (SCBT) Antibodies for PRKCSH
Protein Products
-
OriGene Purified Proteins for PRKCSH
- Search Origene for MassSpec and Protein Over-expression Lysates for PRKCSH
- Origene Custom Protein Services for PRKCSH
- Search GeneTex for Proteins for PRKCSH
-
Abcam proteins for PRKCSH
Assay Products
No data available for DME Specific Peptides for PRKCSH Gene
Domains & Families for PRKCSH Gene
Gene Families for PRKCSH Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted secreted proteins
Protein Domains for PRKCSH Gene
Suggested Antigen Peptide Sequences for PRKCSH Gene
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for PRKCSH Gene
Function for PRKCSH Gene
Molecular function for PRKCSH Gene
- UniProtKB/Swiss-Prot Function:
- Regulatory subunit of glucosidase II.
- GENATLAS Biochemistry:
- protein kinase C substrate 80K-H (substrate for protein kinase C)
Phenotypes From GWAS Catalog for PRKCSH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IEA | -- |
| GO:0005080 | protein kinase C binding | IPI | 15707389 |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IEA | -- |
| GO:0044325 | ion channel binding | IPI | 19801576 |
Phenotypes for PRKCSH Gene
- MGI mutant phenotypes for PRKCSH:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PRKCSH:
-
- Condensed cis-Golgi
- Decreased shRNA abundance (Z-score < -2)
- Decreased telomerase activity
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased viability in esophageal squamous lineage
- Decreased shRNA abundance
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Increased transferrin (TF) endocytosis
Animal Models for PRKCSH Gene
- MGI Knock Outs for PRKCSH:
-
- Prkcsh Prkcsh<tm1.1Som>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PRKCSH
-
CRISPR Products
-
OriGene CRISPR knockouts for PRKCSH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRKCSH
- genomics-online: gRNA clones - Search results for available PRKCSH gene related products
- Applied Biological Materials CRISPR for PRKCSH
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRKCSH
- GenScript: Design CRISPR guide RNA sequences for PRKCSH
miRNA for PRKCSH Gene
- miRTarBase miRNAs that target PRKCSH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRKCSH
- Browse OriGene Inhibitory RNA Products For PRKCSH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRKCSH
- genomics-online: shRNA clones - Search results for available PRKCSH gene related products
Clone Products
- Sino Biological Human cDNA Clone for PRKCSH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PRKCSH
- genomics-online: cdna clones - Search results for available PRKCSH gene related products
- orf clones - Search results for available PRKCSH gene related products
- Applied Biological Materials Clones for PRKCSH
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PRKCSH
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRKCSH Gene
Localization for PRKCSH Gene
Subcellular locations from UniProtKB/Swiss-Prot for PRKCSH Gene
- Endoplasmic reticulum.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
- Endoplasmic reticulum (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | NAS | 2793184 |
| GO:0005783 | endoplasmic reticulum | IDA,IEA | 19801576 |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
Pathways & Interactions for PRKCSH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Calnexin/calreticulin cycle | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Metabolism of proteins | ||
| 4 | Protein processing in endoplasmic reticulum | ||
| 5 | Advanced glycosylation endproduct receptor signaling | ||
Pathways by source for PRKCSH Gene
8 Reactome pathways for PRKCSH Gene
1 KEGG pathway for PRKCSH Gene
UniProtKB/Swiss-Prot P14314-GLU2B_HUMAN
- Pathway: Glycan metabolism; N-glycan metabolism.
Interacting Proteins for PRKCSH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001889 | liver development | IEA | -- |
| GO:0006457 | protein folding | TAS | -- |
| GO:0006491 | N-glycan processing | IEA | -- |
| GO:0006807 | nitrogen compound metabolic process | IEA | -- |
| GO:0010977 | negative regulation of neuron projection development | IEA | -- |
No data available for SIGNOR curated interactions for PRKCSH Gene
Drugs & Compounds for PRKCSH Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Cellobiose | Experimental | Pharma | 0 |
Drug Products
Transcripts for PRKCSH Gene
mRNA/cDNA for PRKCSH Gene
- (10) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (1035) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000591462 2209 bps (uc060tss.1)
- ENST00000591946 569 bps (uc060tst.1)
- ENST00000589126 625 bps (uc060tsu.1)
- ENST00000588269 557 bps (uc060tsv.1)
- ENST00000587509 545 bps (uc060tsw.1)
Unigene Clusters for PRKCSH Gene
- Protein kinase C substrate 80K-H:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PRKCSH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRKCSH
- genomics-online: gRNA clones - Search results for available PRKCSH gene related products
- Applied Biological Materials CRISPR for PRKCSH
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRKCSH
- GenScript: Design CRISPR guide RNA sequences for PRKCSH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRKCSH
- Browse OriGene Inhibitory RNA Products For PRKCSH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRKCSH
- genomics-online: shRNA clones - Search results for available PRKCSH gene related products
Clone Products
- Sino Biological Human cDNA Clone for PRKCSH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PRKCSH
- genomics-online: cdna clones - Search results for available PRKCSH gene related products
- orf clones - Search results for available PRKCSH gene related products
- Applied Biological Materials Clones for PRKCSH
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP13: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP23: |
| ExUns: | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | · | 19d | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP8: | - | - | |||||||||||||||||||||||||||||||||||
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| SP14: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||
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| SP18: | |||||||||||||||||||||||||||||||||||||
| SP19: | - | ||||||||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||||||||||
| SP22: | |||||||||||||||||||||||||||||||||||||
| SP23: |
Expression for PRKCSH Gene
This gene is overexpressed in Lymph node (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRKCSH Gene
NURSA nuclear receptor signaling pathways regulating expression of PRKCSH Gene:
PRKCSHSOURCE GeneReport for Unigene cluster for PRKCSH Gene:
Hs.610830Evidence on tissue expression from TISSUES for PRKCSH Gene
- Nervous system(4.9)
- Liver(4.8)
- Lung(4.8)
- Blood(4.6)
- Intestine(4.3)
- Kidney(4.3)
- Skin(4.1)
- Spleen(3.8)
- Eye(3.3)
- Muscle(2)
- Stomach(2)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKCSH Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- nervous
- skeletal muscle
- urinary
Regions:
Head and neck:
- ear
Thorax:
- heart
Abdomen:
- abdominal wall
- biliary tract
- kidney
- liver
General:
- blood
- blood vessel
Primer Products
-
OriGene qPCR primer pairs for PRKCSH
- genomics-online: primer clones - Search results for available PRKCSH gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRKCSH Gene
Orthologs for PRKCSH Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PRKCSH 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PRKCSH 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PRKCSH 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Prkcsh 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Prkcsh 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PRKCSH 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PRKCSH 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PRKCSH 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | prkcsh 33 |
|
||
| MGC75615 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | prkcsh 34 33 |
|
OneToOne | |
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6453 34 35 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004609 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_ZK1307.8 33 |
|
||
| ZK1307.8 34 |
|
OneToOne | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GTB1 34 |
|
OneToOne | |
| rice (Oryza sativa) |
Liliopsida | Os.6899 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2522 34 |
|
OneToMany | |
| CSA.7249 34 |
|
OneToMany |
- Species where no ortholog for PRKCSH was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- 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 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 PRKCSH Gene
- ENSEMBL:
- Gene Tree for PRKCSH (if available)
- TreeFam:
- Gene Tree for PRKCSH (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PRKCSH: view image
Paralogs for PRKCSH Gene
No data available for Paralogs for PRKCSH Gene
Variants for PRKCSH Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1047200179 | uncertain-significance, Polycystic liver disease | 11,450,779(+) | C/A/T | 3_prime_UTR_variant | |
| rs11557488 | benign, not specified, Polycystic liver disease | 11,447,460(+) | G/A/C | coding_sequence_variant, missense_variant | |
| rs115820640 | likely-benign, Polycystic liver disease | 11,435,665(+) | C/G/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant | |
| rs121918519 | pathogenic, Congenital cystic disease of liver | 11,448,604(+) | C/T | coding_sequence_variant, stop_gained | |
| rs121918520 | pathogenic, Congenital cystic disease of liver | 11,448,917(+) | C/G/T | coding_sequence_variant, stop_gained, synonymous_variant |
Residual Variation Intolerance Score:
39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
14.60;
96.53% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PRKCSH Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKCSH Gene
Disorders for PRKCSH Gene
(11) MalaCards diseases for PRKCSH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| polycystic liver disease 1 with or without kidney cysts |
|
|
| polycystic liver disease |
|
|
| liver disease |
|
|
| ciliary dyskinesia, primary, 30 |
|
|
| polycystic kidney disease 1 with or without polycystic liver disease |
|
Search PRKCSH in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GLU2B_HUMAN- Polycystic liver disease 1 (PCLD1) [MIM:174050]: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. {ECO:0000269 PubMed:12529853, ECO:0000269 PubMed:12577059}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PRKCSH
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PRKCSH Gene
Publications for PRKCSH Gene
- Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. (PMID: 12529853) Li A … Somlo S (American journal of human genetics 2003) 2 3 4 22 58
- PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. (PMID: 19308730) Yang AM … Yang WS (Digestive diseases and sciences 2010) 3 22 44 58
- Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. (PMID: 16835903) Waanders E … Drenth JP (Human mutation 2006) 3 22 44 58
- Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. (PMID: 12577059) Drenth JP … Jansen JB (Nature genetics 2003) 3 4 22 58
- A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group. (PMID: 9043864) Ophoff RA … Frants RR (European journal of human genetics : EJHG 1996) 3 4 22 58
Products for PRKCSH Gene
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- GeneTex PRKCSH Antibody for PRKCSH
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Sources for PRKCSH Gene
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