Aliases for PEX26 Gene
Aliases for PEX26 Gene
External Ids for PEX26 Gene
- HGNC: 22965
- Entrez Gene: 55670
- Ensembl: ENSG00000215193
- OMIM: 608666
- UniProtKB: Q7Z412
Previous GeneCards Identifiers for PEX26 Gene
- GC22P016935
- GC22P018560
- GC22P002373
Summaries for PEX26 Gene
-
This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]
GeneCards Summary for PEX26 Gene
PEX26 (Peroxisomal Biogenesis Factor 26) is a Protein Coding gene. Diseases associated with PEX26 include Peroxisome Biogenesis Disorder 7B and Peroxisome Biogenesis Disorder 7A. Among its related pathways are Peroxisome. GO annotations related to this gene include protein complex binding and ATPase binding.
UniProtKB/Swiss-Prot for PEX26 Gene
-
Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX26 Gene
Genomics for PEX26 Gene
Regulatory Elements for PEX26 Gene
Enhancers for PEX26 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PEX26 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PEX26 gene promoter:
Regulatory Element Products
Genomic Location for PEX26 Gene
- Chromosome:
- 22
- Start:
- 18,077,920 bp from pter
- End:
- 18,131,138 bp from pter
- Size:
- 53,219 bases
- Orientation:
- Plus strand
Genomic View for PEX26 Gene
Genes around PEX26 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.21 by Ensembl
- 22q11.21 by Entrez Gene
- 22q11.21 by HGNC
PEX26 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 PEX26 Gene
Proteins for PEX26 Gene
-
Protein details for PEX26 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7Z412-PEX26_HUMAN
- Recommended name:
- Peroxisome assembly protein 26
- Protein Accession:
- Q7Z412
- F6UBB5
- Q7Z413
- Q7Z414
- Q7Z415
- Q7Z416
- Q96B12
- Q9NWQ0
- Q9NXU0
Protein attributes for PEX26 Gene
- Size:
- 305 amino acids
- Molecular mass:
- 33898 Da
- Quaternary structure:
-
- Interacts directly with PEX6 via its cytoplasmic domain. Interacts indirectly with PEX1, via its interaction with PEX6.
- SequenceCaution:
-
- Sequence=BAA90920.1; Type=Erroneous termination; Positions=253; Note=Translated as Lys.; Evidence={ECO:0000305};
Protein Expression for PEX26 Gene
Post-translational modifications for PEX26 Gene
Other Protein References for PEX26 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PEX26
-
Abcam antibodies for PEX26
- Invitrogen Antibodies for PEX26
- antibodies-online Antibodies for PEX26: See all 26
- GeneTex PEX26 antibody for PEX26
-
Santa Cruz Biotechnology (SCBT) Antibodies for PEX26
Protein Products
-
OriGene Purified Proteins for PEX26
- Search Origene for MassSpec and Protein Over-expression Lysates for PEX26
- Origene Custom Protein Services for PEX26
- antibodies-online Proteins for PEX26: See all 7
- Search antibodies-online for peptides
- GeneTex Proteins for PEX26
-
Abcam proteins for PEX26
No data available for DME Specific Peptides for PEX26 Gene
Domains & Families for PEX26 Gene
Gene Families for PEX26 Gene
- HGNC:
Suggested Antigen Peptide Sequences for PEX26 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q7Z412- Family:
-
- Belongs to the peroxin-26 family.
Function for PEX26 Gene
Molecular function for PEX26 Gene
- UniProtKB/Swiss-Prot Function:
- Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0008022 | protein C-terminus binding | IPI | 15713480 |
| GO:0032403 | protein complex binding | IDA | 16854980 |
| GO:0051117 | ATPase binding | IPI | 16257970 |
Phenotypes for PEX26 Gene
- MGI mutant phenotypes for PEX26:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PEX26:
Animal Models for PEX26 Gene
- MGI Knock Outs for PEX26:
-
- Pex26 tm1.1(KOMP)Vlcg
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PEX26
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PEX26 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PEX26 gene
- Search ViGene Biosciences for PEX26
CRISPR Products
-
OriGene CRISPR knockouts for PEX26
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX26
- GenScript: Design CRISPR guide RNA sequences for PEX26
miRNA for PEX26 Gene
- miRTarBase miRNAs that target PEX26
-
- hsa-mir-23a-3p (MIRT050399)
- hsa-mir-545-3p (MIRT352215)
- hsa-mir-567 (MIRT352216)
- hsa-mir-219a-2-3p (MIRT489310)
- hsa-mir-297 (MIRT489311)
- hsa-mir-6867-5p (MIRT489312)
- hsa-mir-891a-3p (MIRT489313)
- hsa-mir-6820-3p (MIRT489314)
- hsa-mir-3164 (MIRT489315)
- hsa-mir-3118 (MIRT489316)
- hsa-mir-134-5p (MIRT489317)
- hsa-mir-142-3p (MIRT489318)
- hsa-mir-6073 (MIRT489319)
- hsa-mir-4302 (MIRT489320)
- hsa-mir-4501 (MIRT489321)
- hsa-mir-4280 (MIRT489322)
- hsa-mir-514b-5p (MIRT509595)
- hsa-mir-513c-5p (MIRT509596)
- hsa-mir-6872-3p (MIRT509597)
- hsa-mir-4307 (MIRT509598)
- hsa-mir-6079 (MIRT517453)
- hsa-mir-3202 (MIRT517454)
- hsa-mir-4533 (MIRT517455)
- hsa-mir-7160-5p (MIRT517456)
- hsa-mir-4478 (MIRT517457)
- hsa-mir-4733-5p (MIRT517458)
- hsa-mir-4419b (MIRT517459)
- hsa-mir-3929 (MIRT517460)
- hsa-mir-6742-5p (MIRT517461)
- hsa-mir-92a-2-5p (MIRT517462)
- hsa-mir-3187-3p (MIRT517463)
- hsa-mir-4435 (MIRT517464)
- hsa-mir-588 (MIRT517465)
- hsa-mir-4701-5p (MIRT517466)
- hsa-mir-548s (MIRT517467)
- hsa-mir-203b-3p (MIRT517468)
- hsa-mir-7158-3p (MIRT517469)
- hsa-mir-2052 (MIRT517470)
- hsa-mir-4736 (MIRT517471)
- hsa-mir-4755-3p (MIRT517472)
- hsa-mir-657 (MIRT517473)
- hsa-mir-4680-5p (MIRT517474)
- hsa-mir-4716-5p (MIRT517475)
- hsa-mir-4673 (MIRT517476)
- hsa-mir-4645-5p (MIRT517477)
- hsa-mir-4692 (MIRT517478)
- hsa-mir-4514 (MIRT517479)
- hsa-mir-4781-3p (MIRT517480)
- hsa-mir-329-5p (MIRT517481)
- hsa-mir-940 (MIRT517482)
- hsa-mir-6893-5p (MIRT517483)
- hsa-mir-6808-5p (MIRT517484)
- hsa-mir-4684-5p (MIRT540452)
- hsa-mir-769-5p (MIRT540453)
- hsa-mir-4786-5p (MIRT540454)
- hsa-mir-6827-3p (MIRT540455)
- hsa-mir-340-3p (MIRT540456)
- hsa-mir-433-5p (MIRT540457)
- hsa-mir-548c-3p (MIRT540458)
- hsa-mir-4298 (MIRT574030)
- hsa-mir-1302 (MIRT574031)
- hsa-mir-185-3p (MIRT574032)
- hsa-mir-4741 (MIRT574033)
- hsa-mir-4675 (MIRT574034)
- hsa-mir-4656 (MIRT574035)
- hsa-mir-7974 (MIRT574036)
- hsa-mir-4743-5p (MIRT574037)
- hsa-mir-4487 (MIRT574038)
- hsa-mir-4663 (MIRT574039)
- hsa-mir-558 (MIRT574040)
- hsa-mir-3160-3p (MIRT574041)
- hsa-mir-134-3p (MIRT574042)
- hsa-mir-6871-5p (MIRT574043)
- hsa-mir-4508 (MIRT574044)
- hsa-mir-483-5p (MIRT574045)
- hsa-mir-6869-5p (MIRT622828)
- hsa-mir-4279 (MIRT622829)
- hsa-mir-1200 (MIRT622830)
- hsa-mir-3653-5p (MIRT622831)
- hsa-mir-6747-3p (MIRT622832)
- hsa-mir-6727-3p (MIRT622833)
- hsa-mir-4722-3p (MIRT622834)
- hsa-mir-544b (MIRT622835)
- hsa-mir-4324 (MIRT622836)
- hsa-mir-5193 (MIRT622837)
- hsa-mir-4756-3p (MIRT626272)
- hsa-mir-3680-3p (MIRT626273)
- hsa-mir-557 (MIRT626274)
- hsa-mir-507 (MIRT626275)
- hsa-mir-450b-5p (MIRT626276)
- hsa-mir-527 (MIRT626277)
- hsa-mir-518a-5p (MIRT626278)
- hsa-mir-548aw (MIRT626279)
- hsa-mir-3140-3p (MIRT626280)
- hsa-mir-1468-3p (MIRT626281)
- hsa-mir-548x-5p (MIRT626282)
- hsa-mir-548g-5p (MIRT626283)
- hsa-mir-548f-5p (MIRT626284)
- hsa-mir-548aj-5p (MIRT626285)
- hsa-mir-6829-3p (MIRT633709)
- hsa-mir-6791-3p (MIRT633710)
- hsa-mir-660-3p (MIRT633711)
- hsa-mir-525-5p (MIRT655237)
- hsa-mir-520a-5p (MIRT655238)
- hsa-mir-5698 (MIRT655239)
- hsa-mir-744-3p (MIRT655240)
- hsa-mir-4423-5p (MIRT655241)
- hsa-mir-143-5p (MIRT655242)
- hsa-mir-367-5p (MIRT655243)
- hsa-mir-1267 (MIRT655244)
- hsa-mir-4638-5p (MIRT655245)
- hsa-mir-1307-3p (MIRT655246)
- hsa-mir-6075 (MIRT655247)
- hsa-mir-5693 (MIRT655248)
- hsa-mir-3152-5p (MIRT655249)
- hsa-mir-4774-3p (MIRT655250)
- hsa-mir-6836-3p (MIRT655251)
- hsa-mir-6778-3p (MIRT655252)
- hsa-mir-891b (MIRT655253)
- hsa-mir-149-5p (MIRT655254)
- hsa-mir-4772-3p (MIRT655255)
- hsa-mir-7113-3p (MIRT655256)
- hsa-mir-6787-3p (MIRT655257)
- hsa-mir-1304-3p (MIRT655258)
- hsa-mir-6791-5p (MIRT655259)
- hsa-mir-4292 (MIRT655260)
- hsa-mir-4308 (MIRT655261)
- hsa-mir-6736-3p (MIRT655262)
- hsa-mir-6890-3p (MIRT655263)
- hsa-mir-5089-5p (MIRT663774)
- hsa-mir-496 (MIRT663775)
- hsa-mir-6506-5p (MIRT663776)
- hsa-mir-619-5p (MIRT663777)
- hsa-mir-3192-5p (MIRT663778)
- hsa-mir-4646-5p (MIRT663779)
- hsa-mir-204-3p (MIRT663780)
- hsa-mir-1298-3p (MIRT663781)
- hsa-mir-3126-3p (MIRT663782)
- hsa-mir-1976 (MIRT710711)
miRNA Products
- Search ViGene Biosciences for PEX26
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PEX26
- Browse OriGene Inhibitory RNA Products For PEX26
-
ViGene Biosciences ready-to-package AAV shRNAs for PEX26 gene
Clone Products
- Sino Biological Human cDNA Clone for PEX26
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PEX26
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PEX26
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PEX26
-
ViGene Biosciences adenoviral particle packaged cDNA for PEX26 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PEX26 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PEX26 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX26 Gene
Localization for PEX26 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PEX26 Gene
- Peroxisome membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| peroxisome | 5 |
| cytosol | 2 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005777 | peroxisome | IEA,IDA | 15858711 |
| GO:0005778 | peroxisomal membrane | IEA | -- |
| GO:0005779 | integral component of peroxisomal membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for PEX26 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peroxisome | ||
Pathways by source for PEX26 Gene
1 KEGG pathway for PEX26 Gene
Interacting Proteins for PEX26 Gene
Selected Interacting proteins:
ENSP00000331106
Q7Z412-PEX26_HUMAN
for PEX26 Gene via
STRING
UniProtKB
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
| GO:0016558 | protein import into peroxisome matrix | IMP | 15858711 |
| GO:0045046 | protein import into peroxisome membrane | IEA | -- |
No data available for SIGNOR curated interactions for PEX26 Gene
Transcripts for PEX26 Gene
mRNA/cDNA for PEX26 Gene
- (3) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (181) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PEX26 Gene
- Peroxisomal biogenesis factor 26:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PEX26
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX26
- GenScript: Design CRISPR guide RNA sequences for PEX26
miRNA Products
- Search ViGene Biosciences for PEX26
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PEX26
- Browse OriGene Inhibitory RNA Products For PEX26
-
ViGene Biosciences ready-to-package AAV shRNAs for PEX26 gene
Clone Products
- Sino Biological Human cDNA Clone for PEX26
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PEX26
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PEX26
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Expression for PEX26 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Bone (30.0), Lung (16.4), and Platelet (12.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PEX26 Gene
NURSA nuclear receptor signaling pathways regulating expression of PEX26 Gene:
PEX26SOURCE GeneReport for Unigene cluster for PEX26 Gene:
Hs.517400mRNA Expression by UniProt/SwissProt for PEX26 Gene:
Q7Z412-PEX26_HUMAN
Tissue specificity:
Widely expressed. Highly expressed in kidney, liver, brain and skeletal muscles. Expressed at intermediate level in pancreas, placenta and heart. Weakly expressed in lung.
Evidence on tissue expression from TISSUES for PEX26 Gene
- Nervous system(4.3)
- Intestine(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX26 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
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 PEX26
No data available for mRNA differential expression in normal tissues for PEX26 Gene
Orthologs for PEX26 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PEX26 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | PEX26 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PEX26 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pex26 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pex26 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PEX26 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PEX26 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PEX26 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pex26 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pex26 34 35 |
|
- Species where no ortholog for PEX26 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- oppossum (Monodelphis domestica)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Paralogs for PEX26 Gene
(5) SIMAP similar genes for PEX26 Gene using alignment to 2 proteins:
No data available for Paralogs for PEX26 Gene
Variants for PEX26 Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs28940308 | Pathogenic, Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872] | 18,079,908(+) | TTGTG(A/G)GGATC | reference, missense | |
| rs61752132 | Pathogenic, Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873] | 18,078,510(+) | CCTCC(C/T)GGTGG | reference, missense | |
| rs62641228 | Pathogenic, Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873], Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872] | 18,079,935(+) | TGGAT(C/T)GGTGG | reference, missense | |
| rs267608190 | Pathogenic | 18,078,607(+) | GGCAC(G/T)TACGT | splice-donor-variant | |
| rs61752129 | Pathogenic | 18,078,410(+) | CCCCC(-/C)TCAGG | reference, frameshift-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758824 | CNV | gain+loss | 17122850 |
| esv3893430 | CNV | gain | 25118596 |
| nsv1055756 | CNV | gain | 25217958 |
| nsv1057188 | CNV | gain | 25217958 |
| nsv1058565 | CNV | gain | 25217958 |
| nsv428385 | CNV | gain+loss | 18775914 |
| nsv469560 | CNV | gain | 16826518 |
| nsv471594 | CNV | gain+loss | 15918152 |
| nsv524564 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.69;
32.22% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for PEX26 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX26 Gene
Disorders for PEX26 Gene
(12) MalaCards diseases for PEX26 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| peroxisome biogenesis disorder 7b |
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| peroxisome biogenesis disorder 7a |
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| neonatal adrenoleukodystrophy |
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| peroxisome biogenesis disorder 1b |
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| peroxisome biogenesis disorders, zellweger syndrome spectrum |
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Search PEX26 in MalaCards
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UniProtKB/Swiss-Prot
PEX26_HUMAN- Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872]: 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:12851857}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269 PubMed:12717447, ECO:0000269 PubMed:12851857}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872]: 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:12717447, ECO:0000269 PubMed:12851857, ECO:0000269 PubMed:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for PEX26
No data available for Genatlas for PEX26 Gene
Publications for PEX26 Gene
- The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. (PMID: 12717447) Matsumoto N. … Fujiki Y. (Nat. Cell Biol. 2003) 2 3 4 22 64
- Mutations in novel peroxin gene PEX26 that cause peroxisome- biogenesis disorders of complementation group 8 provide a genotype- phenotype correlation. (PMID: 12851857) Matsumoto N. … Fujiki Y. (Am. J. Hum. Genet. 2003) 2 3 4 46 64
- Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PMID: 19105186) Yik W.Y. … Hacia J.G. (Hum. Mutat. 2009) 3 4 22 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
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