TRAP1

Chr 16

TNF receptor associated protein 1

Also known as: HSP 75, HSP75, HSP90L, TRAP-1

NCBI Gene: 10131 ENSG00000126602 UniProt: Q58FF3 OMIM: 606219

The protein is a mitochondrial chaperone of the HSP90 family with ATPase activity that regulates cellular stress responses. Mutations cause autosomal recessive spastic paraplegia and Charcot-Marie-Tooth disease, primarily affecting the nervous system. The gene shows very low constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

LOEUF 1.41

Clinical Summary— TRAP1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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