B9D1 Human
B9 Protein Domain 1 Human Recombinant
Cat. No.
BT25174
Source
E.coli.
Synonyms
B9 Protein Domain 1, MKSR1, Endothelial Precursor Protein
B9, MKS1-Related Protein 1, MKS9, B9 Domain-Containing Protein 1, EPPB9, B9, B9
domain-containing protein 1.
Appearance
Sterile Filtered colorless solution.
Purity
Greater than 85% as determined by SDS-PAGE.
Usage
THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
Shipped with Ice Packs 
In Stock 
Description
B9D1 Human Recombinant produced in E.Coli is a single,
non-glycosylated polypeptide chain containing 227 amino acids (1-204 a.a) and
having a molecular mass of 25.2kDa.
B9D1 is fused to a 23 amino acid His-tag at N-terminus
& purified by proprietary chromatographic techniques.
Product Specs
Introduction
B9 domain-containing protein (B9D1) is involved in ciliogenesis. Changes in B9D1 expression have been observed in a family affected by Meckel syndrome, a condition linked to at least six genes. B9D1 is located within the Smith-Magenis syndrome region on chromosome 17. There are three known alternatively spliced transcript variants of B9D1, each encoding different protein isoforms.
Description
Recombinant human B9D1 protein, expressed in E. coli, is a single, non-glycosylated polypeptide chain. It consists of 227 amino acids (residues 1-204), with a molecular weight of 25.2 kDa. This B9D1 protein has a 23 amino acid His-tag fused at its N-terminus and is purified using proprietary chromatographic methods.
Physical Appearance
Clear, colorless solution, sterile-filtered.
Formulation
The B9D1 protein is supplied in a solution at a concentration of 1 mg/ml. The solution contains 20 mM Tris-HCl buffer (pH 8.0), 10% glycerol, and 0.4 M Urea.
Stability
For short-term storage (2-4 weeks), keep at 4°C. For longer periods, store frozen at -20°C. Adding a carrier protein (0.1% HSA or BSA) is recommended for long-term storage. Avoid repeated freeze-thaw cycles.
Purity
Purity is greater than 85% as determined by SDS-PAGE analysis.
Synonyms
B9 Protein Domain 1, MKSR1, Endothelial Precursor Protein
B9, MKS1-Related Protein 1, MKS9, B9 Domain-Containing Protein 1, EPPB9, B9, B9
domain-containing protein 1.
Source
E.coli.
Amino Acid Sequence
MGSSHHHHHH SSGLVPRGSH MGSMATASPS VFLLMVNGQV ESAQFPEYDD LYCKYCFVYG QDWAPTAGLE
EGISQITSKS QDVRQALVWN FPIDVTFKST NPYGWPQIVL SVYGPDVFGN DVVRGYGAVH VPFSPGRHKR
TIPMFVPEST SKLQKFTSWF MGRRPEYTDP KVVAQGEGRE
VTRVRSQGFV TLLFNVVTKD MRKLGYDTGP SDTQGVLGPS PPQSFPQ.
Product Science Overview
Gene Information
Protein Function
Biological Processes
Associated Diseases
Alterations in the expression of the B9D1 gene have been linked to several genetic disorders, including:
- Meckel Syndrome: A rare, lethal genetic disorder characterized by renal cystic dysplasia, polydactyly, and central nervous system malformations. Meckel syndrome has been associated with at least six different genes, including B9D1 .
- Joubert Syndrome: A rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. B9D1 mutations have been identified in some cases of Joubert syndrome .
Research and Clinical Relevance
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