Gene: [07q2/PEX1] peroxisome biogenesis factor 1; peroxin-1; Refsum disease, infantile form (neonatal adrenoleukodystrophy); Zellweger syndrome; [IRD NALD ZS ]
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COM |
The PEX1 gene encodes a 147-kD member of the AAA protein family (ATPases associated with diverse cellular activities). By computer-based 'homology probing' using the yeast sequence to screen a database of expressed sequence tags (dbEST) for human cDNA clones, found a contig sequence localized to 7q21-q22 that exactly matched their cDNA (Portsteffen-1997)." |
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FUN |
The expression of human PEX1 restored peroxisomal protein import in fibroblasts from 30 patients with peroxisomal biogenesis disorders of complementation group 1 (Reuber-1997)." |
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REL |
GEM:12p13/PXR1; GEM:06p211/PEX6; GEM:06q2/PEX7; GEM:00.0/PEX12; GEM:00.0/PEX13; GEM:00.0/PEX14; GEM 08q211/PXMP3." |
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REF |
MUT,GEN,EXP "Portsteffen H &: Nature Genet, 17, N4, 449-452, 1997 PAT,MUT "Reuber BE &: Nature Genet, 17, N4, 445-448, 1997 |
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KEY |
mem |
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CLA |
coding, basic |
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LOC |
07 q21-q22 |
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MIM |
MIM: 602136 |
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SYN |
IRD NALD ZS |
