DISEASES

Disease-gene associations mined from literature

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Literature associating PEX11A and rhizomelic chondrodysplasia punctata type 2

PEX11A [ENSP00000300056]

28 kDa peroxisomal integral membrane protein; May be involved in peroxisomal proliferation and may regulate peroxisomes division. May mediate binding of coatomer proteins to the peroxisomal membrane (By similarity). Promotes membrane protrusion and elongation on the peroxisomal surface; Peroxins

Synonyms:  PEX11A,  PEX11Ap,  hPEX11A,  B2R8C6,  B4DMF6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.