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heat shock protein 75 kDa, mitochondrial

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]

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

Standing AS et al. (2020) TRAP1 chaperone protein mutations and autoinflammation.

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2.

Song HY et al. (1995) Identification of a protein with homology to hsp90 that binds the type 1 tumor necrosis factor receptor.

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3.

Chen CF et al. (1996) A new member of the hsp90 family of molecular chaperones interacts with the retinoblastoma protein during mitosis and after heat shock.

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4.

Raskind WH et al. (1998) Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

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5.

Simmons AD et al. (1999) A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses.

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6.

Felts SJ et al. (2000) The hsp90-related protein TRAP1 is a mitochondrial protein with distinct functional properties.

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7.

Chen B et al. (2005) The HSP90 family of genes in the human genome: insights into their divergence and evolution.

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Update: Aug. 14, 2020
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