{"symbol":"KLHL3","synonyms":["PHA2D"],"name":"kelch-like family member 3","description":"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. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]","ncbiEntrezGeneId":26249,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/26249","proteins":[{"symbol":"KLHL3_HUMAN","href":"/api/1.0/protein/KLHL3_HUMAN"}],"hgncRootFamilies":[{"name":"BTB (POZ) domain containing (BTBD)","href":"/api/1.0/gene_family/BTB+%28POZ%29+domain+containing+%28BTBD%29"},{"name":"Kelch-like (KLHL)","href":"/api/1.0/gene_family/Kelch-like+%28KLHL%29"}]}