| Gene Name | PEX5 |
|
| Specie | Homo sapiens | |
| Full Name | peroxisomal biogenesis factor 5 | |
| Also known as | PBD2A|PBD2B|PTS1-BP|PTS1R|PXR1|RCDP5 | |
| Coordinate | chr12:7188653-7218574 | |
| Strand | + | |
| Gene summary | The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| PEX5P1 | chr1:247182821-247184023 | - |
Intergenic |
ENSG00000215795 | UCSC |
| >NM_001374647.2 |
| CTCTTCTCCCCTCCCCCAAGCCAGCACCTGGTGCCCCGGCGGGTCGTGCGGCGCGGCGCTCCGCGGTGAGCGCCTGACCCCGAGGGGGCCCGGGGCCGCGTCCCTGGGCCCTCCCCACCCTTGCGGTGGCCTCGCGGGTCCCAGGGGCGGGGCTGGAGCGGCAGCAGGGCCGGGGAGATGGGCGGTGGGGAGCGCGGGAGGGACCGGGCCGAGCCGGGGGAAGGGCTCCGGTGACTTAAGGGGAGGGAATGCTCCTCTGCCGTGCTCACCGCGTGCTGGGGCTGCGCGGGGCTAGGTATGGTCGGGCTGTTTTCCCACTGTCCCTTCTTCGGGCAGTGTCGCCGTCCAGCCTGGTTGTTGAAGCGTCCCCGTGGTCCCCCGGGGTCCAGGCCCCTTTGTGGAGGCAGCTGCTGGCCCCCAGCCCATGGGACCGTAGTCGCGGAGGCCTCTGCAGAGGCGCAGGCTGGAAGCGGTGGCCTTTGAGGGGGGCGGCAGGAGAGAGTACCGACCTCCCTCGAACTCCTGGCAGAGGTGGGGGTCGCAGCAAAAGCACTGGGGTGGAGGGCGGCCAGTGTGGGGCAGACGCCTGTGTGCCTTCCTCAGATACGGGCAGAGTTGTGGATGTGAGAAGGGTCTGGCTTGGGTACCTCAGTTCCAAACCTCCTGTGTCCATCAGAGAGCTGGCGGTCACCATGGCAATGCGGGAGCTGGTGGAGGCCGAATGCGGGGGTGCCAACCCGCTCATGAAGCTCGCCGGGCACTTCACCCAGGACAAGGCCCTTCGGCAGGAGGGATTGAGGCCTGGCCCCTGGCCCCCCGGAGCCCCGGCCTCTGAGGCAGCCTCCAAGCCTTTGGGAGTAGCTTCTGAAGATGAGTTGGTGGCTGAATTCCTGCAGGACCAGAATGCACCCCTTGTGTCCCGTGCCCCTCAGACCTTCAAGATGGATGACCTCCTGGCTGAGATGCAGCAGATTGAGCAGTCAAACTTCCGCCAGGCTCCCCAGAGAGCCCCTGGTGTGGCAGACTTGGCCTTGTCTGAGAACTGGGCCCAGGAGTTTCTTGCAGCTGGAGATGCTGTGGATGTAACTCAGGATTATAATGAGACTGACTGGTCCCAAGAATTCATCTCTGAAGTTACAGACCCCTTGTCTGTGTCCCCTGCCCGCTGGGCTGAGGAATATTTGGAGCAATCAGAGGAGAAGCTGTGGCTGGGAGAACCTGAGGGAACAGCCACCGATCGCTGGTATGATGAATATCATCCTGAGGAGGATCTGCAGCACACGGCCAGTGACTTTGTGGCCAAAGTGGATGACCCCAAATTGGCTAATTCTGAGTTCCTGAAATTCGTGCGGCAGATTGGCGAAGGGCAGGTGTCCCTGGAGTCCGGTGCAGGGTCGGGCCGAGCTCAGGCAGAACAGTGGGCAGCAGAGTTTATACAGCAGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGTCTGATGTCGATTTCTGGGACAAGTTGCAGGCAGAGTTGGAGGAGATGGCAAAACGGGATGCTGAGGCCCACCCCTGGCTTTCTGACTATGATGACCTTACGTCAGCTACCTATGATAAGGGGTACCAGTTTGAGGAGGAGAACCCCTTGCGTGATCACCCTCAGCCTTTTGAAGAAGGGCTGCGGCGCCTTCAGGAGGGGGACCTGCCAAATGCTGTGCTGCTTTTTGAGGCAGCTGTGCAGCAGGATCCTAAGCACATGGAAGCTTGGCAGTATCTGGGTACCACCCAGGCAGAGAATGAACAAGAACTATTAGCCATCAGTGCATTGCGGAGGTGTCTGGAGCTAAAGCCAGATAACCAGACAGCACTGATGGCGCTGGCTGTGAGCTTCACCAACGAGTCCCTGCAGCGACAGGCCTGTGAAACCCTACGAGACTGGCTGCGGTACACACCAGCCTATGCCCATCTGGTGACACCTGCTGAAGAAGGGGCTGGTGGGGCAGGACTGGGCCCCAGCAAGCGTATCCTGGGATCTCTCTTGTCTGACTCCCTGTTTCTTGAAGTGAAAGAGCTCTTCCTGGCAGCTGTGCGGCTGGACCCTACCTCCATTGACCCTGATGTGCAGTGTGGCTTGGGAGTCCTTTTCAACCTGAGTGGGGAGTATGACAAGGCCGTGGACTGCTTCACAGCTGCCCTCAGCGTTCGTCCCAATGACTATTTGCTGTGGAATAAGCTAGGCGCCACCCTGGCCAATGGAAACCAGAGTGAAGAAGCAGTAGCTGCGTACCGCCGGGCCCTCGAGCTCCAGCCTGGCTATATCCGGTCCCGCTATAACCTGGGCATCAGCTGCATCAACCTCGGGGCTCACCGGGAGGCTGTGGAGCACTTTCTGGAGGCCCTGAACATGCAGAGGAAAAGCCGGGGCCCCCGGGGTGAAGGAGGTGCCATGTCGGAGAACATCTGGAGCACCCTGCGTTTGGCATTGTCTATGTTAGGCCAGAGCGATGCCTATGGGGCAGCCGACGCGCGGGATCTGTCCACCCTCCTAACTATGTTTGGCCTGCCCCAGTGACAGTGGGACGGGCTGCCCTGTGAGTGTCCACCTGGAGGGATCCCCGCTTTGGATGTGATTCCCTCTCCCCAAATGGGCCTACCAAGGGGGCGGGCTGATGACCATAAGCGGTACGGCCTTTCAGGAGCTGCCTCAACGTAGGGGTGGGTAGTCTGTGTTCTAGTTCCTACATAATTGTAGGAAAATGAGCTGTGTCATCTCTGAGTCCCTTGGTAATTCAAGGGCTGTACATCCAGCTACAGATCTCTCTGCTCATCATGCCCTTTCTTGGTGCTGCTTTTTGGGTAGGACCCCACGATTTAGGGTAACTGTTATCATCAGCTGCCATTTCTGATAGGGTCTACCACATCTGTAATGTCTGTCCTTTCCCCCACTTTTACTGGGAATTGATAGTCCAGCTTCCTTGGGCAGTGTAAGTAGGAGGTTCATCTGCTGTGCGCCTCTAATGTCTGTCTGGATGGGATGTGTTAGGAGTTGGCCTGTTGGGTTGAATTGTTGATTTGGCTGAGCAGAGCTGAGTTTTGGTAGGAGTGCTCATGGTTCTGTCATTCTTGGACCTCTCCTGGCTGAGCTCTGATTCCCTGTGAGCACGATGCTGATGCAATAGTCCTGTGTCATCACTGCAGCGGTCCTCAGGAGCTGCCAGGGCCAATTGCTACAGAGTGTCTGGGTGTGTGGCATAGGAGGAAGGTTTGCTTGTGAAATGAGGCTGGGTGGGAGCGGGGAGGGACTAGATCAGAAGAGATCAAGGGCTCTATTCAGGAACGTTGGTGGGAGGACAGAGCAAGTGGGAAGGGGGTATGGTGAGTGCGGCAATCCCTCATCCTCTTAGAAGCACCTGTGAATGGGAATTGAGCCAACTGTTATAGAAAATTGGTTCAGAAAGTGCAATCTTGCCAGATTTCTAGCAAATAGGTTCAGTGTTACCATAAGCCTTTGCTGTACTTCTTGAAATGTTTCTAGGGGAGAGCATTGGAAAATCCCCTTCCCCCATCTAGATCGAAGGAAGATGAGGGAGCAGCTTGGATTCTTCTCAGTTGTCCCCTGCATGGGGAGATACACTAACCCCCAGAAATGACTGCTAAGCCTCTTGCCTTGTCTTTAGTAGCTAATGATCAGAGAGATTTTTTTTTTAAACTACCATGGTCCCAGGATTCCATCCTGAAATTTATTTTTCTTTGTATGAATATGTGTAAATGATTTAAAAATAAAACTGTAAAATATTTGTACGAAGAA |