Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Progesterone-induced-blocking factor 1

The PIBF1 gene encodes a protein that is stimulated by progesterone and probably plays a role in pregnancy. Autosomal recessive mutations have been observed in patients with Joubert syndrome 33.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 33
PIBF1

References:

1.

Rozenblum E et. al. (2002) A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes.

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2.

Polgar B et. al. (2003) Molecular cloning and immunologic characterization of a novel cDNA coding for progesterone-induced blocking factor.

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3.

Wheway G et. al. (2015) An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

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Update: Oct. 11, 2018