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The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and... See more...
Aliases for PEX16 Gene
Aliases for PEX16 Gene
External Ids for PEX16 Gene
- HGNC: 8857
- Entrez Gene: 9409
- Ensembl: ENSG00000121680
- OMIM: 603360
- UniProtKB: Q9Y5Y5
Previous GeneCards Identifiers for PEX16 Gene
- GC11M047715
- GC11M046620
- GC11M045962
- GC11M045895
- GC11M045887
- GC11M045931
- GC11M045638
- GC11M047070
- GC11M047917
- GC11M055784
- GC11M055991
- GC11M056144
- GC11M059666
- GC11M050774
- GC11M051569
- GC11M052231
- GC11M052891
- GC11M053559
- GC11M054225
- GC11M054891
- GC11M055588
Summaries for PEX16 Gene
-
The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for PEX16 Gene
PEX16 (Peroxisomal Biogenesis Factor 16) is a Protein Coding gene. Diseases associated with PEX16 include Peroxisome Biogenesis Disorder 8B and Peroxisome Biogenesis Disorder 8A. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding.
UniProtKB/Swiss-Prot Summary for PEX16 Gene
-
Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3.
Additional gene information for PEX16 Gene
- HGNC(8857)
- Entrez Gene(9409)
- Ensembl(ENSG00000121680)
- OMIM(603360)
- UniProtKB(Q9Y5Y5)
- Open Targets Platform(ENSG00000121680)
- Monarch Initiative
- Search for PEX16 at DataMed
- Search for PEX16 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX16 Gene
Genomics for PEX16 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PEX16 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 PEX16 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEX16
- Top Transcription factor binding sites by QIAGEN in the PEX16 gene promoter:
-
- AML1a
- c-Myb
- C/EBPalpha
- CHOP-10
- E47
- Egr-2
- FOXJ2
- FOXJ2 (long isoform)
- Gfi-1
- HFH-1
Genomic Locations for PEX16 Gene
Genomic Locations for PEX16 Gene
- chr11:45,909,663-45,918,812
- (GRCh38/hg38)
- Size:
- 9,150 bases
- Orientation:
- Minus strand
- chr11:45,931,220-45,940,363
- (GRCh37/hg19)
- Size:
- 9,144 bases
- Orientation:
- Minus strand
Genomic View for PEX16 Gene
Genes around PEX16 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p11.2 by HGNC
- 11p11.2 by Entrez Gene
- 11p11.2 by Ensembl
PEX16 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 PEX16 Gene
Proteins for PEX16 Gene
-
Protein details for PEX16 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y5Y5-PEX16_HUMAN
- Recommended name:
- Peroxisomal membrane protein PEX16
- Protein Accession:
- Q9Y5Y5
- Q9BWB9
Protein attributes for PEX16 Gene
- Size:
- 336 amino acids
- Molecular mass:
- 38629 Da
- Quaternary structure:
-
- Interacts with PEX19.
Protein Expression for PEX16 Gene
Post-translational modifications for PEX16 Gene
Other Protein References for PEX16 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ PEX16 Antibody
-
Custom Antibody ServicesOriGene Antibodies for PEX16
- Novus Biologicals Antibodies for PEX16
-
Abcam antibodies for PEX16
- Invitrogen Antibodies for PEX16 (AFLGC-PEX16)
-
Boster Bio Antibodies for PEX16
-
Santa Cruz Biotechnology (SCBT) Antibodies for PEX16
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PEX16
- Origene Custom Protein Services for PEX16
- antibodies-online: Show 8 available PEX16 Proteins ranked by validation data
- Compare Top PEX16 Proteins
-
Quality Products:
-
Abcam proteins for PEX16
No data available for DME Specific Peptides for PEX16 Gene
Domains & Families for PEX16 Gene
Gene Families for PEX16 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Suggested Antigen Peptide Sequences for PEX16 Gene
- GenScript: Design optimal peptide antigens:
-
- Peroxisomal biogenesis factor 16 (PEX16_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y5Y5- Family:
-
- Belongs to the peroxin-16 family.
Function for PEX16 Gene
Molecular function for PEX16 Gene
- UniProtKB/Swiss-Prot Function:
- Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3.
Phenotypes From GWAS Catalog for PEX16 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 12096124 |
| GO:0008022 | protein C-terminus binding | IPI | 15713480 |
Phenotypes for PEX16 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PEX16 - Select products 50% OFF >
- * PEX16 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PEX16
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PEX16
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX16
miRNA for PEX16 Gene
- miRTarBase miRNAs that target PEX16
-
- hsa-miR-124-3p (MIRT022948)
- hsa-miR-7106-3p (MIRT713406)
- hsa-miR-3189-5p (MIRT713407)
- hsa-miR-4758-3p (MIRT713408)
- hsa-miR-5699-5p (MIRT713409)
- hsa-miR-324-3p (MIRT713410)
- hsa-miR-1913 (MIRT713411)
- hsa-miR-7113-3p (MIRT713412)
- hsa-miR-6752-3p (MIRT713413)
- hsa-miR-6887-3p (MIRT713414)
- hsa-miR-4286 (MIRT713415)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PEX16
- Browse OriGene Inhibitory RNA Products For PEX16
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX16
Clone Products
- Applied Biological Materials (abm): Clones for PEX16 - Select products 50% OFF >
- * PEX16 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PEX16
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PEX16
Cell Line Products
-
Horizon Cell Lines for PEX16
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PEX16 Gene
Localization for PEX16 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PEX16 Gene
- Peroxisome membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| peroxisome | 5 |
| endoplasmic reticulum | 5 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005777 | peroxisome | IEA,IDA | 9837814 |
| GO:0005778 | peroxisomal membrane | IEA,IBA | 21873635 |
| GO:0005779 | integral component of peroxisomal membrane | IMP | 9922452 |
| GO:0005783 | endoplasmic reticulum | IDA | 19479899 |
| GO:0005789 | endoplasmic reticulum membrane | IDA | 16717127 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PEX16 Gene
Pathways & Interactions for PEX16 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peroxisome | ||
Pathways by source for PEX16 Gene
1 KEGG pathway for PEX16 Gene
Interacting Proteins for PEX16 Gene
Selected Interacting proteins:
Q9Y5Y5-PEX16_HUMAN
ENSP00000241041
for PEX16 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PEX16
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006625 | protein targeting to peroxisome | IMP | 9837814 |
| GO:0007031 | peroxisome organization | IEA,IMP | 15813749 |
| GO:0016557 | peroxisome membrane biogenesis | IMP | 9837814 |
| GO:0016558 | protein import into peroxisome matrix | IMP | 9922452 |
| GO:0022615 | protein to membrane docking | IDA | 19114594 |
No data available for SIGNOR curated interactions for PEX16 Gene
Transcripts for PEX16 Gene
mRNA/cDNA for PEX16 Gene
- 2 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000241041 1479 nts (view in UCSC)
- ENST00000378750 1668 nts (view in UCSC)
- ENST00000523721 325 nts (view in UCSC)
- ENST00000525192 903 nts (view in UCSC)
- ENST00000525229 588 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PEX16 - Select products 50% OFF >
- * PEX16 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PEX16
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PEX16
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX16
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PEX16
- Browse OriGene Inhibitory RNA Products For PEX16
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX16
Clone Products
- Applied Biological Materials (abm): Clones for PEX16 - Select products 50% OFF >
- * PEX16 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PEX16
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PEX16
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||
| SP4: | - |
Relevant External Links for PEX16 Gene
- GeneLoc Exon Structure for
- PEX16
Expression for PEX16 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Bone (44.3) and Lung (10.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX16 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEX16
SOURCE GeneReport for Unigene cluster for PEX16 Gene:
Hs.100915Evidence on tissue expression from TISSUES for PEX16 Gene
- Lung(4.2)
- Nervous system(2.6)
- Liver(2.2)
- Skin(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX16 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- inner ear
- jaw
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- olfactory bulb
- outer ear
- scalp
- skull
- tongue
Thorax:
- bronchus
- chest wall
- clavicle
- esophagus
- heart
- lung
- rib
- rib cage
- scapula
- sternum
- thymus
Abdomen:
- abdominal wall
- adrenal gland
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- ovary
- pelvis
- penis
- testicle
- ureter
- urethra
- uterus
- vagina
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
- blood vessel
- coagulation system
- hair
- lymph node
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for PEX16
-
OriGene qPCR primer pairs and template standards for PEX16
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX16 Gene
Orthologs for PEX16 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PEX16 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PEX16 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PEX16 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pex16 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pex16 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PEX16 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PEX16 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PEX16 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PEX16 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pex16 30 |
|
||
| Str.8967 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | pex16 30 31 |
|
OneToOne | |
| Dr.16594 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002283 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pex16 30 31 |
|
OneToOne | |
| CG3947 32 |
|
|
|||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU01850 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4212 31 |
|
OneToOne |
- Species where no ortholog for PEX16 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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 Vase (Ciona intestinalis)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for PEX16 Gene
- ENSEMBL:
- Gene Tree for PEX16 (if available)
- TreeFam:
- Gene Tree for PEX16 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PEX16: view image
Paralogs for PEX16 Gene
No data available for Paralogs for PEX16 Gene
Variants for PEX16 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEX16 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 30351 | Pathogenic: Peroxisome biogenesis disorder 8B | 45,910,280(-) | TC/T | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
| 6467 | Pathogenic: Peroxisome biogenesis disorder 8A | 45,910,896(-) | A/G | SPLICE_DONOR_VARIANT | |
| 719045 | Benign/Likely Benign: Peroxisome biogenesis disorder 8A; Peroxisome biogenesis disorders, Zellweger syndrome spectrum | 45,916,309(-) | G/A | INTRON_VARIANT | |
| 736603 | Likely Benign: not provided | 45,910,941(-) | G/A | SYNONYMOUS_VARIANT | |
| 738979 | Likely Benign: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | 45,917,451(-) | G/A | INTRON_VARIANT |
Residual Variation Intolerance Score:
59.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.44;
54.73% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PEX16 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX16 Gene
Disorders for PEX16 Gene
(17) MalaCards diseases for PEX16 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| peroxisome biogenesis disorder 8b |
|
|
| peroxisome biogenesis disorder 8a |
|
|
| zellweger syndrome |
|
|
| peroxisome biogenesis disorder 1b |
|
|
| neonatal adrenoleukodystrophy |
|
|
Search PEX16 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PEX16_HUMAN- Peroxisome biogenesis disorder complementation group 9 (PBD-CG9) [MIM:614876]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269 PubMed:9837814}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Peroxisome biogenesis disorder 8A (PBD8A) [MIM:614876]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:9837814}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]: A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. {ECO:0000269 PubMed:20647552}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PEX16
No data available for Genatlas for PEX16 Gene
Publications for PEX16 Gene
- Peroxisome synthesis in the absence of preexisting peroxisomes. (PMID: 9922452) South ST … Gould SJ (The Journal of cell biology 1999) 2 3 4
- Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. (PMID: 9837814) Honsho M … Fujiki Y (American journal of human genetics 1998) 3 4 23
- Sec16B is involved in the endoplasmic reticulum export of the peroxisomal membrane biogenesis factor peroxin 16 (Pex16) in mammalian cells. (PMID: 21768384) Yonekawa S … Tani K (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4
- Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. (PMID: 20647552) Ebberink MS … Ferdinandusse S (Journal of medical genetics 2010) 3 4
- The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER. (PMID: 16717127) Kim PK … Lippincott-Schwartz J (The Journal of cell biology 2006) 3 4
ExternalLinks
Products for PEX16 Gene
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- Browse Recombinant Antibodies
- Invitrogen Antibodies for PEX16 (AFLGC-PEX16)
- VectorBuilder Custom and pre-made DNA vectors for PEX16 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PEX16 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PEX16 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PEX16 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PEX16
- antibodies-online: Show 13 available PEX16 Antibodies ranked by validation data
- Compare Top PEX16 Antibodies
- antibodies-online: Search results for available PEX16 related products ranked by validation data
- antibodies-online: Show 8 available PEX16 Proteins ranked by validation data
- Compare Top PEX16 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for PEX16
- Search Santa Cruz Biotechnology (SCBT) for PEX16 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PEX16
- Horizon Cell Lines for PEX16
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PEX16
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PEX16
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PEX16
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX16
- Boster Bio Antibodies for PEX16
- Browse Boster Bio ELISA Kits
Sources for PEX16 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB