Product Overview
Description
CLPP-00150299 is recombinant human B9D2 protein
Applications
Mass Spectrometry, SDS-PAGE
Protein Length
Full length protein
Nature
Recombinant Protein
Sequence
MGSSHHHHHHSSGLVPRGSHMGSMAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLEIGLLLRNFDRYGVEC
Predicted Molecular Weight
22 kDa including tags
Target Information
Alternative Names
B9 domain containing protein 2; B9 protein domain 2; ICIS 1; Involved in cIlia stability 1; MGC4093; MGC41256; MKS1 related protein 2; MKS10; MKSR2; RGD1566122; Stumpy; Stumpy, mouse, homolog of
Protein Function
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.
Involvement in Disease
Meckel syndrome 10 (MKS10): A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. The disease is caused by variants affecting the gene represented in this entry. Joubert syndrome 34 (JBTS34): A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS34 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
Shipping & Handling
Constituents
50% Glycerol (glycerin, glycerine), 0.03% DTT, 0.32% Tris HCl, 1.17% Sodium chloride, 0.03% EDTA.
Shipping
Shipped at 4 °C.
Storage
Store at -20 °C or -80 °C.
