Home

Search

Browse

Statistics

User guide

FAQs

Links

Questions

Contribute

Download

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PEX12 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 5193 Official gene symbol PEX12 Full name peroxisomal biogenesis factor 12 Aliases ,PAF-3, 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] Location Chromosome: 17   Locus: 17q12 Gene position 33905656 - 33901814  Map Viewer Gene orientation minus Gene size 3843 bp Gene sequence >PEX12:complement(8638808..8642650):Length=3843 TAGAGCGCCTCTCTTCCGCCAGGCATCCCAGAGGTCCTGGTGGTTTCATTTCCGGGTGCG GCTTCTGTCATAAAGCGGAGACCTCCCTTCAAACGTGGCGTCGTGGGTTGTTTGCGCCTC GCCTGGGGTCAGCGAGCAAGGACGGGCGCGGGCGGGGATACTCAAAGCCAACAGCTGGAG TCAGCCCTTGTGTCCCGGGCTCACAGTGGCACGACTGAATCCTCAGAGTCGGCTGGCTTT TGAGCTCTCACGATTGGGGAGGAGGGGGCGTTTCTGGTTCGCAGCTCCAGAGGATTGCGT TCCTTCCCCCATACCTGTCCCCCACAGTCACGCTCTGCCCTGACGTGCAGCATTTGACAA GTTACCCCCTCGCCACATACTACTTCCACCCACGTCCGAGTTAACTTTGTTCTTAACCTT CTTGAGACTACCCTCGGCCTCCAGGTCTTTTTTTCCCAGTTCATTTTTGCCCATAAGATT GAGTTTCGAGTTTCAGATATCATGCAGAAAGTTTACCTTTAAGACTGAGCACCCATCTGA TACTCTTCCTCCCGAAAAAGTTCATGCTCACGAGAGAGTTTGTGGGAAAAGTGAAAGCCA GTACACGCAGGAAACTATGGCTGAGCACGGGGCTCACTTCACAGCTGCTTCTGTGGCCGA TGACCAGCCATCCATCTTTGAGGTGGTAGCACAGGACAGTTTAATGACAGCAGTGAGACC CGCTCTTCAGCATGTGGTCAAGGTAAGGTATTAATTCTTGGAAAGGTTTTAGGGACAACT GGGTAAAAAACAAACGAATAATTTGTGCTTATTTGGTAGCCTAGCGTTTGAAATAGCCAA TTTGCAAATAACTTGTATCCCATGACTTAAGAGTTACTGAGTCTCTGTTATGTGTAGAGA CCTGTACTGAATACCCAGCATTTCAGGGTCCAACAGTGACTTATTTAAAACAAATTGTGT AGACTTTAGAGGAAAAGGGGGAATGTAAATAGGTGTAGAACTTGTGTAATGGAATGAATT TCACTTATTGCTTTATTTTGCTTTAGGTTCTTGCAGAATCAAATCCCACCCACTATGGCT TCTTGTGGAGGTGGTTTGATGAAATCTTTACTCTGCTAGATCTTCTGCTCCAGCAACATT ATCTGTCTAGAACCAGTGCCTCATTTTCTGAAAACTTTTACGGCTTAAAGAGAATTGTAA TGGGGGACACTCACAAGTCTCAGAGATTGGCTAGTGCTGGTCTCCCAAAGCAGCAGCTTT GGAAATCTATTATGTTCCTGGTTCTTCTTCCCTATCTGAAAGTGAAGCTGGAGAAGCTGG TTTCTAGCCTGAGAGAAGAGGATGAATATTCTATTCATCCCCCTTCTTCCCGCTGGAAAC GATTTTACAGAGCTTTCCTGGCAGCCTACCCATTTGTGAACATGGCCTGGGAAGGATGGT TTCTTGTACAACAACTTCGATACATCCTAGGAAAAGCTCAGCATCACTCACCACTGCTGA GGCTGGCTGGAGTTCAGCTAGGTCGACTGACAGTTCAGGATATACAAGCTCTGGAGCACA AACCAGCTAAGGCCAGCATGATGCAGCAACCAGCCAGGAGGTAAGGCCTTAACATTTCCA AAAGATCTTTAGTTAGTAAATTCGAAAATCGTATCCCAGTTTTGTAAAATTCACCTCCCT GTTAACTTTGTGGCATTTCATAGAGTCATAGAAAAGCTATTCCTTGTGTCCATAAAACAA GGACTGTCATCCTGGTAACCTTCATCATTCTAGGTATACTTTAGTGCATACTTGCTATGT CCCAGGCCCTGTGCTAGGTGCTTGCTTTACGTACATTATCTCAATCCTCAACACAACCCA ATGAAGTAAATGTATTAGCTCACAGTTGAGGAAACTAAACCCAAGCAGTTAAGTACCTTG CCAAAGTCACGTAGGTACATAGAAGGTGGCAGAGCTGGGATTCAAACCAAACCAATACAA TTCTAAAGACTGTGCTCTGTGAGCCACTGCACCCAGCCTAAGACTGTGCTCTTAATCATG ATGCTGTGCTCCTTCTAGTTCATATTTGTGTTCTCCTACAAGTTCAAATATATACATTCC TCAATACTGCTAAGTTTTTTATTAAGTGAATTGGGTTTTTTTTTTTTTTTCTGGATCACT ATCTTCCACTAAAAAAAGGGAGGTCTATATAATCAAATTCTCTGATTTATCTTTCAAAAC ACAAAACCAAACCCTAATCATGTTACTAAAAACAAAGCTTAGCTCCTATGCTCCTAAAAT ATTGTAAGTTAGAATCACTTAGAATAGATCCTTAAGGAGATAGTACCAGTCTACCAACCA TTCAGTCCCCCAGTGATTCTGATGAAAAATGTAAGAATTGCATTTATATTAGTCACTTTG TAATGATACCTAAATAAAGTTTCTCTCTTTGCCTCCTTGTTCTTTTCTCCCAACAGTGTT AGTGAGAAGATAAACTCAGCTCTGAAGAAAGCTGTTGGGGGTGTTGCCTTATCCCTGTCT ACTGGCCTTTCTGTGGGTGTATTCTTCTTGCAGTTCCTTGACTGGTGGTACTCATCTGAA AATCAAGAAACCATCAAGTCATTGACTGCCCTGCCTACTCCACCACCACCTGTACACCTA GACTATAACTCTGATTCTCCCCTCTTACCCAAAATGAAGACTGTGTGCCCACTGTGTCGT AAAACCCGGGTGAATGATACTGTTCTTGCCACCTCTGGCTATGTGTTTTGTTACCGCTGT GTGTTTCATTATGTGAGGAGTCACCAAGCTTGTCCCATCACAGGTTATCCAACAGAAGTA CAACATCTGATTAAACTCTACTCCCCTGAGAACTGAAAGGGAATCATGTCTTATCCTCAC AACAAAAGTATTGCGCTGTAATGTCACAGAGCTGGTTTCAGCATGGTATTGAGTTGACAC TTCTCAGCCTCAATTCATAACTATATGAACTTTAAATGATTATATGGATTTCTTTAAAAG GATATGCCCATTTGATCCTAACCTTTTAGCCTGCTCTCTAGAACCCTACTTACAGTTGAC CAAGCTGCTTAAAGTAGAAGGATCAGGACTGGCAGGGGATATGAGGGCCAGTGTAGAGAT TAAACAGAATAATGAGTACACAAGTTTTTGCCTATCCCTTTCCTTAAAATATAAGAAATA AAGGAGCTCTTACGAAAAACCCAGGTTAGACCGCATAAAAAATAAAGTGAACAGTGAGGT GGTAGCAAGACTTCTTTTTAGAAAAGAAAGCATTTACCTGCCTGTCTGTAAGGTGGAAAT TTCATCAGTTTGCAAACGATAAGAAATGCAGACTTGCTCTTGATAGAAATGCTTAGAAAC ACTCTGGGGGGGAAAAAAGCTCCTTCCATATACTGTGAGACATTTGTTAAGTGACATCTA TTGTTTATCAGCTTTTAAGGATAAAAAAGGTATTTTAAAAGTTGGATATTTAGGATATTT GAGGATATTCCTTTATGAGCTCTCCATATCCTTCTTGAGAAACTGGTTAAAAAAGGAATA GGGGTTGAGTGTTACAGAGAGTAGTCTGAAGATTCCTGTGTAAAAGCAAAGCTAACAAGC AATGAAGACATGAAGCAAAATACTAATCTAATTGTGTAAAGAAAGGATATTTTAATAAGT TCTTTCTGCTTGCTGCTAAGAGTTTGCTAAAGTGTCATGAATTATTCTGGTTATTACTAA AGTTTCTATGAAACACTTAAGTAGATTTTAAGAATAAATGTTTCTGGAAAAGAACTATGT TATGATTTTGTAGAAATGTAAAGATTACTTGAGGTGTTTAAAATAAATTTTTCATTCAGA CTA OMIM ID 601758