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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PEX19 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 5824 Official gene symbol PEX19 Full name peroxisomal biogenesis factor 19 Aliases ,D1S2223E,FLJ55296,HK33,PMP1,PMPI,PXF,PXMP1, Gene summary This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). 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. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some 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), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq] Location Chromosome: 1   Locus: 1q23.2 Gene position 160254941 - 160246599  Map Viewer Gene orientation minus Gene size 8343 bp Gene sequence >PEX19:complement(11735241..11743583):Length=8343 CTCCTACGGCAAGTCGGAGGTAGCAAGATGGCCGCCGCTGAGGAAGGCTGTAGTGTCGGG GCCGAAGCGGACAGGGAATTGGAGGAGCTTCTGGAAAGTAAGAGCCCATAGTGGGAAAGG CCCGAAGAGGGCACGTGTGAGGACCCATTCTGGGGGTTAAGTGAACCTGAGATATTAGGG ACGGGCAGGAGAGGCTCTCCAAAGGTTAAATGGGGGCGGAGAGTCTGACCCCCGAGCCCC CCAAAAATCTCTGGGTCATCCTGCCCCACCCCGGCGACTGGAGCTGGGGAGCTCACCTGG GGTCCCTCAGTGGTCCGGATGGTGGATGTTTCCGCAGGACGGCGTTTCATGATACCTCTT CAAACTCCTCTTTAGGTTACTGAGTTCTTAAAGTTCGACTTCAGCAGCAGTAGCAGCAGC AGCAGCATTTGGTTCTTGCTGGGTAGCGAACTACGCACTCACTGATTGCTTACATTAACT CCTAGCAAGCTCGTGGCCGGTCCTTGTGTGCCTCGTCCTGTCTTCCTTAACACGAAAGAC ACTTTTCTCCTCCTAGTCCTTTTCTCTTTCTCTCGTTAGGCCCCTTAACAGTTCTTTCAT CTTGTCAGTAGCTCAAGCGGACTCCTTTCCCTTATTTTGAGAAACTGAGGATGTGGCGAT TTCAGGGGAAAGCAGTTCACCCTCCTGAAAGACGGGGGATGTTTTCTTAGCATTACTCTC CACTCCCCTGTTGACTTCCTGCCCAGAGTAGGGCCAGTGCTCTCTCCCTAGGCCTGGCGA ACAGAATGGTGGTGAGGACACAGGCTTTTCAGGGCAGAGGTGAATTTGTAATCGCTTGCT CAATCACGGAGATGTGGGCAGGCAGAAAAATGAACAGAAACCCTGAGGAGTGCCAAGTGA CTGTGTAAATTAGTGTACGGTTATCTGCAGAGATCAGGCCAAAGGGAGCTCTAGAAGGTT GTTGGGGAGCACTAAACTGGAGAATAAGAGAAGATAGTTTAATGCCGTACCATGGAGTCT GGTATGTAGTCCCTCAGTCTGTGCTGGTACCAGTACCAACAGGAAGCTGGGTGGGATGTC CTGTGCTTTCTCACCAAGTTATTCCTTTTAGAGCTCCAGAGTGAGTTCAGAGGGATGAGG ACATCTGTGTTCTCTACTACTGTTGGGTATTTGTATGGGATTTCTAGGGAATCGTTAGGG TGTGGCAAGGGAGACACTATAGATGGAGATGTCTCTGCAGAACTTTTTAATCCTCTCCTC CCAGCTCTGAGATGGACATTTGTTCCACCTTAAGGGATTTCTTTGCCTTTGCTCACAATA AATTAGGTAATCCAGAAGGAAGTAGGAGGCTCATTGAGGGTGGTCTGGGGAGGTGGGGGA CTCAAGGAGGAAAATTGAGGAAAGTTGGCAATTTGAAAAATCATATTCCTAATGCTTTGC CCAGAAACCACCCAGCCTTGCTTGCATTCTCATCTGTCGCCAACACACACACCATGTCTC TTGTCTCTGAAGGTGCTCTTGATGATTTCGATAAAGCCAAACCCTCCCCAGCACCCCCTT CTACCACCACGGCCCCTGATGCTTCGGGGCCCCAGAAGAGATCGCCAGGAGACACTGCCA AAGTATAAATTCCACCCCCTTAAGGGATGGGGAGGGGATGGGCATGCAGCCCTGAGCAGA GGTTGGGCAGGCCCCTATGGGCCAGAGGGGAATGTGGGAGGGTACCTTGGCCTCACATTG GTGAGTGCTCTTGCCAGCCTCAGTCCTTGTGAAATAAGGACTTGAGGTTGAGTGGGGGAA TCTCAGAGTTCCTTGAAAAAATAGTAGGTTTAAATGGTTGGATTGGTATGCCATCCCATA CCCTCCTTCAATGACTAGATACCTTTTTTGCTATCCTCATTAGGAGCAGTAGTTAGAATG TCCAGTGGAATTGGGTAGGAGGGAGGTGCATTTCCCATAGCCACTGCCTGTGGCTTCTAT CAGAGGCCAGGTGCAGTGTAGTCCTAAGTAAGAGACGCATTTCAGCCATCCTTCCCCCGC AGGATGCCCTCTTCGCTTCCCAAGAGAAGTTTTTCCAGGAACTATTCGACAGTGAACTGG CTTCCCAAGCCACTGCGGAGTTCGAGAAGGCAATGAAGGAGTTGGCTGAGGAAGAACCCC ACCTGGTGGAGCAGTTCCAAAAGCTCTCAGAGGCTGCAGGGAGAGTGGGTGAGGAGACCC CAGATACATGGAAATATCTGAACAGACTCTTAAGTCTTTGTTGCCTGAAAACACCAGAAT TCTTAGTGAAGTTGATAGCAATCATGATGTCACAGCCAAGGAACGGGTAAAGGCAATGAG AGAAAGGATGGGAATCCCTGTTAATGAAAAGGGGTGAGATAGGTTGGAAAGTAATAGAAA ACATTATTCAAAACTGACCATTTGAAAGGTCACAGTGTTATTGTGGGTATCATCATGGAG AATAAACTGATGCAGAGTCCGTGTACTAAATAGATTTATGAAAAGACTATGAAGATAACC ATAGGGTTTTCCAAGATTGGGAGTGATAATGATTCACTAGTAAATGCTTCATATCCAAGC TGTTAACCAGTTCAGTCTAGGCAAGGAAACAAACTCCTAAATGACGCTGGCTTTTTTAAT CTCTCCTAGGCAGTGATATGACCTCCCAACAAGAATTCACTTCTTGCCTAAAGGAAACAC TAAGTGGATTAGCCAAAAATGCCACTGACCTTCAGGTGAGGAGAAAGTAGTAGGGGCCCA CAAGGGGTCCACTCCCAGACATTTCTCCAGCAGAGTCTCAAAAGACAGATGCTTTGAGTA TCATCCCAAGTCTGTTGCTGTCTTATTGTTTGTTACAGGCAAGTTTAGATAGTTTATCTT TGTCACCTGAGAGAGTGGTGAGCATCCCAAGAAGGTAGTATACCTGCTCACCTCTTACTT GTCCTATCTAGAACTCCAGCATGTCGGAAGAAGAGCTGACCAAGGCCATGGAGGGGCTAG GCATGGACGAAGGGGATGGGGAAGGGAACATCCTCCCCATCATGCAGAGTATTATGCAGA ACCTACTCTCCAAGGATGTGCTGTACCCATCACTGAAGGAGATCACAGAAAAGGTTTGTG AACTTCCATTTCTGCTTTTTCTCTTCATTTTCCATCACATCAACTGATGTGGGCTATTTT GTCTACTCAGAGCCTGCAGAAAGAGTAACTCGAGTGTGCTTTTTTTCCTTCTTTATTTAT TTGAGGCAGGGAGAGTTGGGGGTTGGGGAGAGTTGTGTCTCTGAGAGAATAAAGCTGTCA CACGGTATGTTGGGGTATAAGAGGTATAACGTTTGGGGTCTAAGAGGAAATCCTTCAGTT CTAGTTTTCTATAAACTGGTTCAAGACTCTGGGATTGTTGTCTGATCAATCTTGCATTTC TGACTTCATTTCTCCAGCAAGAATTTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAG CACCTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGC CAACATGGTGAAACCCCGTCTGTAGTAAAAATACAAAAATTATCCTGGCGTAGTGGCTCA CGCCTGTGATCGCAACTACTCAGGAGGCAGCAGGAGAATCACTTGAACCTGGGAGGCAGA GGTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCGGCCTGGGTGACAGAGCAAGACTCC ATCTGAAAAAGAAAAAGAATTAACTGAGGATTTACTTACTGGCTTTGTGATGTGAACAGT GTAAGCGTAGTTTAAATGATGGTCCCTGCCATAAAAGAGCTTATATGTGTGGTTGTATCA TTTTGTTTTGAGACAGGGTCTAGCTCCAGTTGGAGCACAGTGGCACGATCTTGGCTCACC ACAGCCTCCCCATCCCAGGCTCAAGTGTTTCTCCCATCTCAGCCTCCTGAGTGGCTGGGA CTACAGGTGTGTGCCACCATGCTTGGCCAATGTTTTCAAAATTTTTTGTAGAGTTGAGCT CTCACTATATTGCTCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCCTCCCACCTCAG CCTCCCAAAATGCTGGGATTACAAGTGTGAGCCACCACACCTGGCTAAAGAGTGTATAGT TTTACTGGAGAGATAAAATACAGGAATAGAAGCTTTTCAGTGACATGGGGAAATGTGGGT AAGTGTGTAATGAATAGTACAGACCACGAGTCAGCAGGCCAAGACCTGGGTGGGACAAAT CCAACTCTCTAGCAAATAATGGTTTTTACATTTTTAAGGTCATTTGAAAAAAACTACAAA GAAAATGTGCAATAGCCGAGCGTAGTGGCTCACTCCTATAGTCCCAGCGCTTTGGGAGGC CACGGTGGACAGATTGCTTGAGCCCAGGAGTTTAAGACCAGCTTGAGCAACATGATGAAA CCCTGTCTCTACAAAATACAAAAAAATTAGCCAGTCACAGTGGTGCACACTTGTAGACCC AGCTACTTGGGGAGGCTCAGGTGGGAGGATTGCTTGAGCCTGGGGAGATCGAGGCTGCAG TGAGTGGTGATCACACCATCACACTCCAGCCTGGGTGACAGAGTAAAACTCTGTCTCGAA AAAAAAGAAAAAAAAAACACAATAGAGACCATATGTGGCCCTTGAAGCCTAAAATATTCA CTGTCTGGCCCTTTACAGAAGCTTACCAATCTCTGGTGACCATAAATGCTAACATGGCCA GGTGATCTGGTTGGAGTCAGTGCCGCTTTTCATGATGAACTTACTTATTTAGCTTTTCGT TTTTCTACGTCCCTTTCCCTTTCACATTTTAATCACATTGTTCTGATTACCCATCCATAT CCATTGTTCACTTAATTCTTTTCCACCCATTCTCTCTTTTCTTAGTATCCAGAATGGTTG CAGAGTCATCGGGAATCTCTACCTCCAGAGCAGTTTGAAAAATATCAGGAGCAGCACAGC GTCATGTGCAAAATATGTGAGCAGTTTGAGGCAGAGACCCCCACAGACAGTGAAACCACT CAAAAGGCTCGTTTTGAGATGGTGCTGGATCTTATGCAGCAGGTAAGGCCTCTTGCCTTC TGCCCACTGGTGCTGTCCACTTAGGTGTTCAGTGAAGGAAGTATCTGGGAAGGATGCAAT ACTGCTAGACCTAGGTGGAGGAGGGATCCTCTCTTGTGATCTCTCTCAGAAGAAATAGAG AGATCATTCATTAGATTCCTCTTCTGGATCCTCTGTTGTTTTCTGGGCTTTTCTCTATTT CATGTTCCATTTTCCTTATTTTCTAGCTACAAGATTTAGGCCATCCTCCAAAAGAGCTGG CTGGAGAGATGGTGAGTATGTCTTATTTTTCCAGATTTTAATTTGAGTCCCCAATTTCCA GAATTCTTTAACCTCTCAGGATTCCACCTAAGGTGAAAATTGTGGCTACTGGGGATGGAT CTTCACGTCTGTCCTAAAAAATGAGCAACTATCTGAGTCCCTTCATCTCTTCCCCAGCCT CCTGGCCTCAACTTTGACCTGGATGCCCTCAATCTTTCGGGCCCACCAGGTGCCAGTGGT GAACAGTGTCTGATCATGTGAAACACAACACGTTTTCCTCTCTGAGTCCCAGCTATGGGG AACATCTGGAGTCAGCAGAACCATTGGGACCTGAGGCAGGAGTGTCACCTGCGGGAGAAG TCTGCCCGCTGCCCTCTGTCATCCCATTCAAGATTGTGCCATACCAGCTGAGGTTTTTCC TCTGTCTCTCTAGGAATAGGGTCTGTTTCACAGGCCATTTCTGTGAACCCTACTCCATTG TGGTTTCTGCCACTATCAAAGTTCCAGCTACCTGCAAGGTGAAGGAAGGCATCCCTTTTG GGGCATGCACTTTCTTTCCTTTCTCAAAATAATGTTATATGTGGCCACACTGATGTTCAC CTTTACGTCCAGGGTCTTTGTGCCTTGTCTCTACTCCCTCTCTTGGATCTGGGGAGGAGG GGCAGAGACCTGGGACTCTGTATTTCTATAGTTCTCCTGGCAGAGCCTTTGAGAATGGGG AGAAACAGCCTGGGCTGGGGCTACAGGTCTGTCACTATGCTCTCTTGCCTTCAGACAGAC CATTCTGAATTCTCTAAAGGGAAAGGGCTTTTGCATCTAATCACAATAGAGTTGAAAGAG AGGCCTTAGGATTCTCCTCTCTCTAGGTGCTGAGCCCTCACCTCCCTGTTCCAGGCTGAG AACTCAAATGGTTACCCTGCTTCTTCCTACAATGCTGTGTGATATGGGTGAACCCAGCCC CTGACCTTCCTCTATCCCCTGCCCATCCTCCCTTTTACCTCCTCTCTTTTTTAAACACCT GTTTATCCCAACCTTTTTGAGCTCAAGCTGTGATAAAGAAGGGCCCATCCTATTTCCCCT CATCTAGTCCATTTACGATTCTCACTGACTCCCCGTCTTCCTGGCAGACACAAATAAACC CAGTGTCAGGTCTAGGAAATTAATGGCTATTCTTCCCCAGATACATTCTGGCTTATTTGA GATACATGATTCTCTTAGAATCCTGTCCCTTGGTTCAGGAAAGTAGCTTGGAAAAGGAGT AGGGGTATAGCTTGGGTCCCTTTTCCTGCAAGGCCCCATGGGGCAGAATATAATAAATAT TCTGAGTGAGGAGTGTGGTCTTTTTCTGATCTTCCTCAGCTTCCGTAAGTTGCAGAGTGA GGTATATTAGGAGACTAGTTCTACACAATATTGTAATGCTGGGTTCCATCAACACCCACC TTCCACAACTCAGTCTGCACCTCAGTTGGCAAAGGAGACTGGATGGCCATCTTTCCTCAT GTTCCCTTGAGTATTTCAATGTAGAAAGCCCTTCAAGTGGTATTATATTTTAACCTTTTA CATTATTGTTATTAATGTTAGTAATATATTGTTATGTTTTCTAAATTATTTTTCTTTAAG CTGACGTGGCTTTTTTTCTGTGGCTCCCAGTGGGTCTACGGACCTTGGCTGACATATGTT GGTAGGTACTCTGGTCAGCTCAGCTGGCTGTCCTGGTTCACTCAGAAGATAAGTCTCTCC AAAGCAAATTCACATGCATTATGAGTCGCTTTGAGCTTCTGACATGTCACTTGCCCCGAG GTTAAAACTTTTCACCCCTTGAAGACCTTACATGTTTTATGGTATTGGTGAGGAAGGAAA TGTTCTCAAGGTCTCAGGCTATTTGGGAAATTCCAACTCCTATACCTTACCAGAGCATGG AAGAGCCCAGATCTGAATGTAAAACGTCTCTGTTCTGCCAGAGATGGAAAAAATACAGGT ATACTTGTGATATAGTCATGGGGCTTCAGTGTCACTATTTTCTCCTTAAAGCTCCAGCCA AAAACTGGACAAGGATAGAGAGGAGGAGGGAAGAACAAAAGAGCCCTTCTCTATGAACCT TGTGCCTTCTGTCCTACCAGTTTTCTTTTACAGATTCTCACTTCTGCTAGCCTAGCCAGG GCTTACTCCAGGAATCTAAATAGATGCCCTAGTCCACTTTATCTTTGTTCCCAAGGCACT CATTTTTATTTTGATTTTGATTGAATGTGAGCAGGTTGACCTCAGGTCACACTTTGTTCC AAAAACTTTTGGAATTATTCCAGGACTTGTGGTGGAGTTATGGTACTCTAGGGCAGTCTT TCTCAAACTATGTATGGTAAAGGACCAGGTTTTTTGTTTTCCAGTCCTTCACTTATCAAT ATGCATTCCTATTGCCCATGACAGGTATGGAGTTCACACTGTGTGCTGCCGACCCGGCAA GTTTGACAGCACCCAAACTGGCCAGACTGTTCTGTAGGTTAAGTCCATTGATCATGTACT TGGATATCACAGCAACATTGAAATGCTAAAAAGTTTTTAAACACTCTCAATTTCTAATTC ACCATGTCACAGACTGGTGAAAAAAAAAAAAAGGTGTTCACTGACCAGCACAAGTCTGCA GATCATCTTTGAGTAGCACTGTTTTGGGGCCCTCGGTCTCTCTGAAGACCCTAGCAGAAC TGATACCTACCTGTATCTCTTGTTCTCTCCTATTTGAGTTTCACTTCCAGAGAACTTGTT CTTCAGCAAGAATGTGTCACTAGTAAGGACATCTCTAGCATTTCTCTAGCCTTCCTTTTC TGCTGCTCAAAAATAATCGTTACAAAGCTTAGGTTTAAGCTGTATATGAAATATTTATGC GACTCTCAAACTTTAAAGGAGTTGCTCCTTTGTTCCAAAATTAAATGTGTTAGATAAATT TGTGATTGTATGGGTGGCTTCATGAATTAAGAATTGAATTAATACAGACTTTTTGATAAT TGG OMIM ID 600279