B9D1 Antilichaam

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.

27077

Q9UPM9

NP_056496

Human

Unconjugated

Primary Antibodies

Signal Transduction

B9D1 Antibody is affinity chromatography purified via peptide column.

Cat. No. 1210 - HEK293 Cell Lysate

1 mg/mL

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

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

None

Blue Ice

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.

IgG

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.

B9D1

Cat. No. 17-010 - HEK293 Cell Slide

B9 protein domain 1

Homo sapiens

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.

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.

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.

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

ELISA, WB, ICC, IF

343478275

Liquid