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:
Related Diseases:
References:
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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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3. |
Polgar B et al. (2003) Molecular cloning and immunologic characterization of a novel cDNA coding for progesterone-induced blocking factor.
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4. |
Orphanet article
Orphanet ID 492567
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NCBI article
NCBI 10464
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6. |
OMIM.ORG article
Omim 607532
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7. |
Wikipedia article
Wikipedia EN (PIBF1)
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Update: Aug. 14, 2020