Gene: [06q2/PEX7] peroxisome biogenesis factor 7 (peroxin-7); peroxisomal PTS2 receptor; peroxisome biogenesis disorder (MIM:601539), complementation group 11; rhizomelic chondrodysplasia punctata (RCDP; MIM:215100); [PTS2R RCDP ]
REF | CLO,SEQ,LOC,MUT "Braverman N &: Nature Genet, 15, N4, 369-376,
1997 CLO,SEQ,MUT "Motley AM &: Nature Genet, 15, N4, 377-380, 1997 CLO,SEQ,MUT "Purdue PE &: Nature Genet, 15, N4, 381-384, 1997 |
SWI | SWISSPROT: O00628 |
KEY | mtbd, mem |
CLA | coding, basic |
LOC | 06 q22-24 |
MIM | MIM: 601757 |
SYN | PTS2R RCDP |
Ссылки:
- Gene: [07q2/PEX1] peroxisome biogenesis factor 1; peroxin-1; Refsum disease, infantile form (neonatal adrenoleukodystrophy); Zellweger syndrome; [IRD NALD ZS ]
- Gene: [08q211/PXMP3] peroxisomal membrane protein 3 (35kD, Zellweger syndrome); peroxin-2; peroxisome biogenesis disorder (MIM:601539), complementation group 10; Zellweger syndrome 3; [PEX2 ZWS3 ]
