Gene: [07q11/ZWS1] Zellweger syndrome 1 (cerebrohepatorenal); [ZS CHR ]
|
COM |
Using the data of Naritomi-1989, one could map ZWS to a narrower subsegment Chr 7q11.23." |
|
HET |
[1] MIM, under the number MIM:214110, registered another type of this
syndrome, which is considered as an independent genetic variant,
although the corresponding gene is not mapped yet (Brul-1988).
[2] Zellweger syndrome phenotype is caused by mutations in any of several different genes involved in peroxisome biogenesis, e.g. peroxin-5 (GEM:12p13/PXR1), peroxin-2 (GEM:08q211/PXMP3), peroxin-6 (GEM:06p211/PEX6), and peroxin-12 (GEM:00.0/PEX12)." |
|
REF |
COM,PAT "Brul S &: J Clin Invest, 81, N6, 1710-1715, 1988 PAT,PHE "Erdem G &: Am J Med Genet, 58, N2, 152-154, 1995 REV,HET "Moser AB &: J Pediatr, 127, N1, 13-22, 1995 LOC,CYG "Naritomi K &: Hum Genet, 84, 79-80, 1989 LOC,CYG "Naritomi K &: Hum Genet, 80, 201-202, 1988 |
|
KEY |
neu, ren, devd |
|
CLA |
unknown, basic |
|
LOC |
07 q11 |
|
MIM |
MIM: 214100 |
|
SYN |
ZS CHR |
