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 ]


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."

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

KEY

mtbd, mem

CLA

coding, basic

LOC

RS

MIM

MIM: 602859

SYN

CG7 NALD