PEX26 (peroxisomal biogenesis factor 26)

2014-11-01  

Identity

HGNC
PEX26
LOCATION
22q11.21
LOCUSID
55670
ALIAS
PBD7A,PBD7B,PEX26M1T,Pex26pM1T
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55670
MIM: 608666
HGNC: 22965
Ensembl: ENSG00000215193

Variants:

dbSNP: 55670
ClinVar: 55670
TCGA: ENSG00000215193
COSMIC: PEX26

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000215193ENST00000329627Q7Z412
ENSG00000215193ENST00000329627A0A024R100
ENSG00000215193ENST00000399744Q7Z412
ENSG00000215193ENST00000399744A0A024R100
ENSG00000215193ENST00000428061Q7Z412
ENSG00000215193ENST00000428061A0A0S2Z5M7
ENSG00000215193ENST00000474897E9PRC5
ENSG00000215193ENST00000610387Q7Z412
ENSG00000215193ENST00000610387A0A0S2Z5M7

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
167631952006Targeting of the tail-anchored peroxisomal membrane proteins PEX26 and PEX15 occurs through C-terminal PEX19-binding sites.36
234606772013Tail-anchored PEX26 targets peroxisomes via a PEX19-dependent and TRC40-independent class I pathway.33
191051862009Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.20
250160212014AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import.16
128518572003Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.15
158587112005Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.11
162579702006Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.5
266279082015Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins.5
303660242019Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.1
304465792019A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder.1

Citation

Dessen P

PEX26 (peroxisomal biogenesis factor 26)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71841/pex26