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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.


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

Related Diseases:

Joubert syndrome 33



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

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Orphanet article

Orphanet ID 492567 external link

NCBI article

NCBI 10464 external link

OMIM.ORG article

Omim 607532 external link

Wikipedia article

Wikipedia EN (PIBF1) external link
Update: Aug. 14, 2020
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