Gene Symbol | PEX13 |
Entrez Gene ID | 5194 |
Full Name | peroxisomal biogenesis factor 13 |
Synonyms | NALD,PBD11A,PBD11B,ZWS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3); Peroxisome biogenesis disorder 11B, 614885 (3) |