Rabbit anti-Human B9D1 Polyclonal Antibody | anti-B9D1 antibody

B9D1 Antibody

Cat. Num. AAA151367

• Gene Names: B9D1; B9; MKS9; EPPB9; MKSR1
• Reactivity: Human
• Applications: ELISA, Western Blot, Immunocytochemistry, Immunofluorescence
• Purity: B9D1 Antibody is affinity chromatography purified via peptide column.
• Synonyms: B9D1; Polyclonal Antibody; B9D1 Antibody; B9; MKS9; EPPB9; MKSR1; B9 domain-containing protein 1; MKS1-related protein 1; B9 protein domain 1; anti-B9D1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: At least two isoforms of B9D1 are known to exist; this antibody will only recognize the longest isoform. B9D1 antibody is predicted to not cross-react with other DNAJC family members.
• Purity/Purification: B9D1 Antibody is affinity chromatography purified via peptide column.
• Form/Format: Liquid
• Concentration: 1 mg/mL (varies by lot)
• Sequence Length: 257

• Applicable Applications for anti-B9D1 antibody: ELISA (EIA), Western Blot (WB), Immunocytochemistry (ICC), Immunofluorescence (IF)
• Application Notes: B9D1 antibody can be used for detection of B9D1 by Western blot at 1 mug/mL. Antibody can also be used for immunocytochemistry starting at 5 mug/mL. For immunofluorescence start at 20 mug/mL.
• Conjugate: Unconjugated
• Immunogen: B9D1 antibody was raised against an 18 amino acid synthetic peptide near the carboxy terminus of human B9D1.
• Buffer: B9D1 Antibody is supplied in PBS containing 0.02% sodium azide.
• Preparation and Storage: B9D1 antibody can be stored at 4 degree C for three months and -20 degree C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

Western Blot (WB)

(Western blot analysis of B9D1 in 293 cell lysate with B9D1 antibody at 1 μg/mL in (A) the absence and (B) the presence of blocking peptide.)

Immunocytochemistry (IHC)

(Immunocytochemistry of B9D1 in 293 cells with B9D1 antibody at 5 μg/mL.)

Immunofluorescence (IF)

(Immunofluorescence of B9D1 in 293 cells with B9D1 antibody at 20 μg/mL.)

Related Product Information for anti-B9D1 antibody

B9D1 Antibody: Meckel syndrome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic kidney disease, central nervous system defects, polydactyly and liver fibrosis. B9D1 is a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. B9D1, and its related protein B9D2, form a complex with MKS1, disruption of which causes MKS. B9D1 is thought to be required for normal hedgehog signaling, ciliogenesis, and ciliary protein localization.

NCBI and Uniprot Product Information

• NCBI GI #: 343478275
• NCBI GeneID: 27077
• NCBI Accession #: NP_056496
• NCBI GenBank Nucleotide #: NM_001243473.1
• UniProt Accession #: Q9UPM9; Q9BU22
• Molecular Weight: 16,919 Da
• NCBI Official Full Name: B9 domain-containing protein 1 isoform a
• NCBI Official Synonym Full Names: B9 protein domain 1
• NCBI Official Symbol: B9D1
• NCBI Official Synonym Symbols: B9; MKS9; EPPB9; MKSR1
• NCBI Protein Information: B9 domain-containing protein 1; MKS1-related protein 1; endothelial precursor protein B9
• UniProt Protein Name: B9 domain-containing protein 1
• Protein Family: B9 domain-containing protein
• UniProt Gene Name: B9D1
• UniProt Synonym Gene Names: MKSR1
• UniProt Entry Name: B9D1_HUMAN

NCBI Description

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011]

Uniprot Description

B9D1: 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. Required for ciliogenesis and sonic hedgehog/SHH signaling. Defects in B9D1 are the cause of Meckel syndrome type 9 (MKS9). 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. Belongs to the B9D family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 17p11.2

Cellular Component: centrosome; membrane; cytosol

Molecular Function: hedgehog receptor activity

Biological Process: smoothened signaling pathway; camera-type eye development; regulation of protein localization; vasculature development; in utero embryonic development; organelle organization and biogenesis; cilium biogenesis; embryonic digit morphogenesis

Disease: Meckel Syndrome, Type 9