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Details of PEX19 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PEX19 | HK33 | PXF | P40855 | PEX19_HUMAN
| Q5QNY4
| Q8NI97 | Peroxisome biogen |
Disease |
|---|
| Disease |
OMIM id |
| Peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:614886]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS) |
infantile Refsum disease (IRD) |
Peroxisome biogenesis disorder 12A (PBD12A) [MIM:614886]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation |
craniofacial abnormalities |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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