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parathyroid horomone responsive B1 protein; protein PTHB1; Bardet-Biedl syndrome 9 protein (PTHB1, BBS9)

Function: - part of BBsome complex Compartment: - cytoplasm, cytoskeleton, centrosome - cell projection, cilium membrane. cytoplasm - localizes to nonmembranous centriolar satellites in the cytoplasm Alternative splicing: named isoforms=6 Expression: - widely expressed - expressed in heart, skeletal muscle, lung, liver, kidney, placenta, brain - down-regulated by parathyroid hormone 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 hormone responsive B1 gene

General

other protein

Properties

SIZE: entity length = 802 aa

Database Correlations

OMIM correlations UniProt Q3SYG4 Entrez Gene 27241 Kegg hsa:27241

References

  1. OMIM :accession 607968
  2. UniProt :accession Q3SYG4

Component-of

BBsome complex