Gene: [00.0/PEX10] peroxisome biogenesis factor 10 (peroxin-10); peroxisome biogenesis disorder, complementation group 7; neonatal adrenoleukodystrophy (MIM:202370); Zellweger syndrome (MIM:214100); [CG7 NALD ]
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PAT |
The peroxisome biogenesis disorders are a group of genetically heterogeneous, lethal diseases that are characterized by neuronal, hepatic, and renal abnormalities and severe mental retardation; in their most severe form, death occurs within the first year of life. Cells from all PBD patients exhibit decreased import of one or more classes of peroxisome matrix proteins, a phenotype shared by yeast pex mutants." |
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REF |
CLO,SEQ,MUT "Chang C-C &: Nature Genet, 15, N4, 385-388, 1997 FUN "Okumoto K &: Nature Genet, 17, N3, 265-266, 1997 PAT,MUT "Warren DS &: AJHG, 63, 347-359, 1998 |
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KEY |
mtbd, mem |
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CLA |
coding, basic |
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LOC |
RS |
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MIM |
MIM: 602859 |
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SYN |
CG7 NALD |
