||ORF Nucleotide Sequence (Length: 1080bp)
||pcDNA3.1-C-(k)DYK or customized vector
|Tag on pcDNA3.1-C-(k)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||peroxisome assembly protein 12
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA298874.1, U91521.1,
BC031085.1 and AI341587.1.
This sequence is a reference standard in the RefSeqGene project.
On Aug 14, 2008 this sequence version replaced gi:4505720.
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].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
Transcript exon combination :: U91521.1, BC031085.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: complete on the 3' end.