B9D1 Antibody

Product Specifications

Background

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 Gene ID

27077

Swiss Prot

Q9UPM9

Accession Number

NP_056496

Host

Rabbit

Reactivity

Human

Clonality

Polyclonal

Conjugation

Unconjugated

Type

Primary Antibodies

Field of Research

Signal Transduction

Purification

B9D1 Antibody is affinity chromatography purified via peptide column.

Positive Control

Cat. No. 1210 - HEK293 Cell Lysate

Concentration

1 mg/mL

Homology

Predicted species reactivity based on immunogen sequence: Rat: (100%), Mouse: (100%)

Buffer

B9D1 Antibody is supplied in PBS containing 0.02% sodium azide.

Modification

None

Shipping Conditions

Blue Ice

Storage Conditions

B9D1 antibody can be stored at 4˚ C for three months and -20˚ 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.

Fragment

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.

Symbol

B9D1

Positive Control 2

Cat. No. 17-010 - HEK293 Cell Slide

NCBI Official Name

B9 protein domain 1

NCBI Organism

Homo sapiens

Background Reference 01

Williams CL, Winkelbauer ME, Schafer JC, et al. Functional redundancy of the B9 proteins and nephocystins in Caenorhabditis elegans ciliogenesis. Mol. Biol. Cell 2008; 19:2154-68.

Background Reference 02

Hopp K, Heyer CM, Hommerding CJ, et al. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. Hum. Mol. Genet. 2011; 20:2524-34.

Background Reference 03

Dowdle WE, Robinson JF, Kneist A, et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am. J. Hum. Genet. 2011; 89:94-110.

Other Product Names

B9D1 Antibody: B9, MKS9, EPPB9, MKSR1, B9 domain-containing protein 1, MKS1-related protein 1

Tested Applications

ELISA, WB, ICC, IF

Protein ID

343478275

Physical Properties

Liquid

Available Sizes

Curated Selection

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