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. |
Source : |
HEK293 |
Species : |
Human |
Tag : |
Myc/DDK |
Molecular Mass : |
64.8 kDa |
AA Sequence : |
MEGESVKLSSQTLIQAGDDEKNQRT ITVNPAHMGKAFKVMNELRSKQLLC DVMIVAEDVEIEAHRVVLAACSPYF CAMFTGDMSESKAKKIEIKDVDGQT LSKLIDYIYTAEIEVTEENVQVLLP AASLLQLMDVRQNCCDFLQSQLHPT NCLGIRAFADVHTCTDLLQQANAYA EQHFPEVMLGEEFLSLSLDQVCSLI SSDKLTVSSEEKVFEAVISWINYEK ETRLEHMAKLMEHVRLPLLPRDYLV QTVEEEALIKNNNTCKDFLIEAMKY HLLPLDQRLLIKNPRTKPRTPVSLP KVMIVVGGQAPKAIRSVECYDFEED RWDQIAELPSRRCRAGVVFMAGHVY AVGGFNGSLRVRTVDVYDGVKDQWT SIASMQERRSTLGAAVLNDLLYAVG GFDGSTGLASVEAYSYKTNEWFFVA PMNTRRSSVGVGVVEGKLYAVGGYD GASRQCLSTVEQYNPATNEWIYVAD MSTRRSGAGVGVLSGQLYATGGHDG PLVRKSVEVYDPGTNTWKQVADMNM CRRNAGVCAVNGLLYVVGGDDGSCN LASVEYYNPVTDKWTLLPTNMSTGR SYAGVAVIHKSLTRTRPLEQKLISE EDLAANDILDYKDDDDKV |
Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
Concentration : |
50 μg/mL as determined by BCA |
Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |