Gene Symbol | PEX10 |
Entrez Gene ID | 5192 |
Full Name | peroxisomal biogenesis factor 10 |
Synonyms | NALD,PBD6A,PBD6B,RNF69 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3); Peroxisome biogenesis disorder 6B, 614871 (3) |