KLHL3
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Kelch-like protein 3 is a protein in humans that is encoded by the KLHL3 gene.[1] Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Function
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex.[1]
Clinical significance
Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia[2] and metabolic acidosis.[1]
References
Further reading
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
- Lua error in package.lua at line 80: module 'strict' not found.
<templatestyles src="Asbox/styles.css"></templatestyles>
 |
This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it. |
