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 |
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