| Gene Name | PEX12 |
|
| Specie | Homo sapiens | |
| Full Name | peroxisomal biogenesis factor 12 | |
| Also known as | PAF-3|PBD3A | |
| Coordinate | chr17:35574795-35578571 | |
| Strand | - | |
| Gene summary | This gene belongs to the peroxin-12 family. 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| PEX12P1 | chr13:89991349-89992897 | + |
Intergenic |
ENSG00000215418 | UCSC |
| >NM_000286.3 |
| GTCATAAAGCGGAGACCTCCCTTCAAACGTGGCGTCGTGGGTTGTTTGCGCCTCGCCTGGGGTCAGCGAGCAAGGACGGGCGCGGGCGGGGATACTCAAAGCCAACAGCTGGAGTCAGCCCTTGTGTCCCGGGCTCACAGTGGCACGACTGAATCCTCAGAGTCGGCTGGCTTTTGAGCTCTCACGATTGGGGAGGAGGGGGCGTTTCTGGTTCGCAGCTCCAGAGGATTGCGTTCCTTCCCCCATACCTGTCCCCCACAGTCACGCTCTGCCCTGACGTGCAGCATTTGACAAGTTACCCCCTCGCCACATACTACTTCCACCCACGTCCGAGTTAACTTTGTTCTTAACCTTCTTGAGACTACCCTCGGCCTCCAGGTCTTTTTTTCCCAGTTCATTTTTGCCCATAAGATTGAGTTTCGAGTTTCAGATATCATGCAGAAAGTTTACCTTTAAGACTGAGCACCCATCTGATACTCTTCCTCCCGAAAAAGTTCATGCTCACGAGAGAGTTTGTGGGAAAAGTGAAAGCCAGTACACGCAGGAAACTATGGCTGAGCACGGGGCTCACTTCACAGCTGCTTCTGTGGCCGATGACCAGCCATCCATCTTTGAGGTGGTAGCACAGGACAGTTTAATGACAGCAGTGAGACCCGCTCTTCAGCATGTGGTCAAGGTTCTTGCAGAATCAAATCCCACCCACTATGGCTTCTTGTGGAGGTGGTTTGATGAAATCTTTACTCTGCTAGATCTTCTGCTCCAGCAACATTATCTGTCTAGAACCAGTGCCTCATTTTCTGAAAACTTTTACGGCTTAAAGAGAATTGTAATGGGGGACACTCACAAGTCTCAGAGATTGGCTAGTGCTGGTCTCCCAAAGCAGCAGCTTTGGAAATCTATTATGTTCCTGGTTCTTCTTCCCTATCTGAAAGTGAAGCTGGAGAAGCTGGTTTCTAGCCTGAGAGAAGAGGATGAATATTCTATTCATCCCCCTTCTTCCCGCTGGAAACGATTTTACAGAGCTTTCCTGGCAGCCTACCCATTTGTGAACATGGCCTGGGAAGGATGGTTTCTTGTACAACAACTTCGATACATCCTAGGAAAAGCTCAGCATCACTCACCACTGCTGAGGCTGGCTGGAGTTCAGCTAGGTCGACTGACAGTTCAGGATATACAAGCTCTGGAGCACAAACCAGCTAAGGCCAGCATGATGCAGCAACCAGCCAGGAGTGTTAGTGAGAAGATAAACTCAGCTCTGAAGAAAGCTGTTGGGGGTGTTGCCTTATCCCTGTCTACTGGCCTTTCTGTGGGTGTATTCTTCTTGCAGTTCCTTGACTGGTGGTACTCATCTGAAAATCAAGAAACCATCAAGTCATTGACTGCCCTGCCTACTCCACCACCACCTGTACACCTAGACTATAACTCTGATTCTCCCCTCTTACCCAAAATGAAGACTGTGTGCCCACTGTGTCGTAAAACCCGGGTGAATGATACTGTTCTTGCCACCTCTGGCTATGTGTTTTGTTACCGCTGTGTGTTTCATTATGTGAGGAGTCACCAAGCTTGTCCCATCACAGGTTATCCAACAGAAGTACAACATCTGATTAAACTCTACTCCCCTGAGAACTGAAAGGGAATCATGTCTTATCCTCACAACAAAAGTATTGCGCTGTAATGTCACAGAGCTGGTTTCAGCATGGTATTGAGTTGACACTTCTCAGCCTCAATTCATAACTATATGAACTTTAAATGATTATATGGATTTCTTTAAAAGGATATGCCCATTTGATCCTAACCTTTTAGCCTGCTCTCTAGAACCCTACTTACAGTTGACCAAGCTGCTTAAAGTAGAAGGATCAGGACTGGCAGGGGATATGAGGGCCAGTGTAGAGATTAAACAGAATAATGAGTACACAAGTTTTTGCCTATCCCTTTCCTTAAAATATAAGAAATAAAGGAGCTCTTACGAAAAACCCAGGTTAGACCGCATAAAAAATAAAGTGAACAGTGAGGTGGTAGCAAGACTTCTTTTTAGAAAAGAAAGCATTTACCTGCCTGTCTGTAAGGTGGAAATTTCATCAGTTTGCAAACGATAAGAAATGCAGACTTGCTCTTGATAGAAATGCTTAGAAACACTCTGGGGGGGAAAAAAGCTCCTTCCATATACTGTGAGACATTTGTTAAGTGACATCTATTGTTTATCAGCTTTTAAGGATAAAAAAGGTATTTTAAAAGTTGGATATTTAGGATATTTGAGGATATTCCTTTATGAGCTCTCCATATCCTTCTTGAGAAACTGGTTAAAAAAGGAATAGGGGTTGAGTGTTACAGAGAGTAGTCTGAAGATTCCTGTGTAAAAGCAAAGCTAACAAGCAATGAAGACATGAAGCAAAATACTAATCTAATTGTGTAAAGAAAGGATATTTTAATAAGTTCTTTCTGCTTGCTGCTAAGAGTTTGCTAAAGTGTCATGAATTATTCTGGTTATTACTAAAGTTTCTATGAAACACTTAAGTAGATTTTAAGAATAAATGTTTCTGGAAAAGAACTATGTTATGATTTTGTAGAAATGTAAAGATTACTTGAGGTGTTTAAAATAAATTTTTCATTCAGACTA |