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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.

Genetests:

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
PIBF1

References:

1.

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

external link
2.

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.

external link
3.

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

external link
4.

Orphanet article

Orphanet ID 492567 external link
5.

NCBI article

NCBI 10464 external link
6.

OMIM.ORG article

Omim 607532 external link
7.

Wikipedia article

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