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NSF

Overview page. Subjects: Medicine and Health.

A homotetrameric protein (N-ethylmaleimide sensitive factor, 744 aa), a member of the AAA family, involved, together with three SNAPs, in mediating vesicle traffic between medial and trans-null...

See overview in Oxford Index

paraplegin

Overview page. Subjects: Chemistry — Medicine and Health.

A nuclear-encoded mitochondrial metalloprotease protein (795 aa) mutated in hereditary spastic paraplegia type 7 (SPG7), causing a mitochondrial dysfunction that appears to disrupt axonal...

See overview in Oxford Index

peroxin

Overview page. Subjects: Chemistry — Medicine and Health.

General name for products of the PEX genes that are essential for peroxisome biogenesis. At least 29 are known and molecular defects have been defined in 10 PEX genes, 8 related to protein...

See overview in Oxford Index

prohibitin

Overview page. Subjects: Medicine and Health — Chemistry.

Highly conserved membrane proteins. Prohibitin-1 (272 aa) has antiproliferative and tumour suppressor activities, and mutations have been linked to sporadic breast cancer. Prohibitin 2...

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protein degradation

Overview page. Subjects: Chemistry.

The hydrolytic catabolism of proteins that occurs in the intestinal tract during digestion or intracellularly as part of regular turnover or apoptosis. Eukaryotic cells contain several...

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spastin

Overview page. Subjects: Medicine and Health.

One of the AAA family of ATPases that is mutated in autosomal dominant hereditary spastic paraplegia type 4 (SPG4). It interacts with microtubules and probably has a role in microtubule...

See overview in Oxford Index

torsin

Overview page. Subjects: Medicine and Health.

A subfamily of the AAA family of ATPases (torsin1A, 332 aa; torsin 1B, 289 aa; torsin 2A, 321 aa; torsin 3A, 397 aa) that are associated with the endoplasmic reticulum and the nuclear...

See overview in Oxford Index

valosin-containing protein

Overview page. Subjects: Medicine and Health.

A structural protein (VCP, p97, 806 aa) of the AAA family that is complexed with clathrin and, like NSF, is involved in vesicle transport and fusion. Missense mutations in VCP are the cause...

See overview in Oxford Index