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parathyroid hormone responsive B1 gene
7p14
Pathology:
1) chromosomal aberration involving PTHB1 translocation t(1;7)(q42;p15) with OBSCN is found in Wilms tumor 5
2) defects in PTHB1 are a cause of Bardet-Biedl syndrome type 9
Related
parathyroid horomone responsive B1 protein; protein PTHB1; Bardet-Biedl syndrome 9 protein (PTHB1, BBS9)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: parathyroid horomone responsive B1 protein
LOCUS: human chromosome-7 P14
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 607968
Entrez Gene 27241
References
OMIM :accession 607968