PEX16 (NM_057174) - peroxisomal biogenesis factor 16
Peroxisomal Biogenesis Factor 16 Isoform 2
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Protein
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Protein summary
The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008].
- Strand
- -
- Chromosome
- 11
- Protein
- 346 residues
- All mutations
- 70
- PTM sites
- 5
- CDS
- 45,931,639 - 45,939,362
- Transcription
- 45,931,219 - 45,939,674
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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External references
- Entrez
- gene: 9409
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UniProt