Gene: [01p2/PXMP1] peroxisomal membrane protein 1 (70kD, Zellweger syndrome); Zellweger syndrome 2; [PMP70 ZWS2 ]


FAG

A total of three peroxisomal membrane proteins are identified. Two of them - PXMP1 and PXMP3 are found to be responsible for Zellweger syndrome (the MIM Calalogue registers them as ZWS2 and ZWS3). It remains questionable whether PXPM2 and ZWS1 (MIM:214100) are related. For more information, see GEM:00.0/PXMP2 and GEM:08q211/PXMP3."

REL

GEM:14q24/PXMP1L; GEM:06p211/PEX6.

REF

LOC,MOL "Gartner J &: Genomics, 15, 412-414, 1993
LOC,MOL "Gartner J &: AJHG, 51, N4 (Suppl), A168, 1992a
LOC,MOL,SEQ,MUT,PAT "Gartner J &: Nature Genet, 1, N1, 16-22, 1992b
SEQ "Kamijo K &: BBA, 1129, 323-327, 1992

SWI

SWISSPROT: P28288

KEY

mem

CLA

coding, basic

LOC

01 p22-21

MIM

MIM: 170995

SYN

PMP70 ZWS2