|
|
|
|
|
|
[1]
|
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1038/ng0497-381; PubMed=9090383 [NCBI, ExPASy, EBI, Israel, Japan]
Purdue P.E.,
Zhang J.W.,
Skoneczny M.,
Lazarow P.B.;
"Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.";
Nat. Genet. 15:381-384(1997).
|
[2]
|
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS RCDP1 ARG-217 AND VAL-218.
TISSUE=Retina;
DOI=10.1038/ng0497-369; PubMed=9090381 [NCBI, ExPASy, EBI, Israel, Japan]
Braverman N.,
Steel G.,
Obie C.,
Moser A.,
Moser H.,
Gould S.J.,
Valle D.;
"Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.";
Nat. Genet. 15:369-376(1997).
|
[3]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/geno.1999.6080; PubMed=10673331 [NCBI, ExPASy, EBI, Israel, Japan]
Braverman N.,
Steel G.,
Lin P.,
Moser A.,
Moser H.,
Valle D.;
"PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.";
Genomics 63:181-192(2000).
|
[4]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Ovary;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[5]
|
VARIANT RD PRO-14.
DOI=10.1086/346093; PubMed=12522768 [NCBI, ExPASy, EBI, Israel, Japan]
van den Brink D.M.,
Brites P.,
Haasjes J.,
Wierzbicki A.S.,
Mitchell J.,
Lambert-Hamill M.,
de Belleroche J.,
Jansen G.A.,
Waterham H.R.,
Wanders R.J.A.;
"Identification of PEX7 as the second gene involved in Refsum disease.";
Am. J. Hum. Genet. 72:471-477(2003).
|
|
|
|
- FUNCTION: Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.
- SUBUNIT: Interacts with PEX5.
- SUBCELLULAR LOCATION: Peroxisome. Cytoplasm.
- TISSUE SPECIFICITY: Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.
- DISEASE: Defects in PEX7 are the cause of peroxisome biogenesis disorder complementation group 11 (PBD-CG11) [MIM:601757]. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 13 distinct genetic groups as concluded from complementation studies.
- DISEASE: Defects in PEX7 are the cause of rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]. RCDP1 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.
- DISEASE: Defects in PEX7 are a cause of Refsum disease (RD) [MIM:266500]; also known as phytanic acid oxidase deficiency. RD is clinically characterized by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life.
- SIMILARITY: Belongs to the WD repeat peroxin-7 family.
- SIMILARITY: Contains 6 WD repeats.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=PEX7";.
|
|
|
|
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| Length: 323 AA [This is the length of the unprocessed precursor] |
Molecular weight: 35892 Da [This is the MW of the unprocessed precursor] |
CRC64: D405387F7F14B432 [This is a checksum on the sequence] |
|
10 20 30 40 50 60
MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI LDPDEAGLRL
70 80 90 100 110 120
FRSFDWNDGL FDVTWSENNE HVLITCSGDG SLQLWDTAKA AGPLQVYKEH AQEVYSVDWS
130 140 150 160 170 180
QTRGEQLVVS GSWDQTVKLW DPTVGKSLCT FRGHESIIYS TIWSPHIPGC FASASGDQTL
190 200 210 220 230 240
RIWDVKAAGV RIVIPAHQAE ILSCDWCKYN ENLLVTGAVD CSLRGWDLRN VRQPVFELLG
250 260 270 280 290 300
HTYAIRRVKF SPFHASVLAS CSYDFTVRFW NFSKPDSLLE TVEHHTEFTC GLDFSLQSPT
310 320
QVADCSWDET IKIYDPACLT IPA
|
O00628 in FASTA format |
|
ExPASy Home page
SIB Switzerland
