Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
BBS9

BBS9

The information on this page was automatically extracted from online scientific databases.

What is the official name of the BBS9 gene?

The official name of this gene is “Bardet-Biedl syndrome 9.”

BBS9 is the gene's official symbol. The BBS9 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the BBS9 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.

How are changes in the BBS9 gene related to health conditions?

Genetics Home Reference provides information about Bardet-Biedl syndrome, which is associated with changes in the BBS9 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the BBS9 gene's known or predicted involvement in human disease.

A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN.

Bardet-Biedl syndrome 9 (BBS9): A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the BBS9 gene.
  • Bardet-Biedl syndrome 9
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the BBS9 gene and its association with health conditions.
OMIM
Number
Title

Where is the BBS9 gene located?

Cytogenetic Location: 7p14

Molecular Location on chromosome 7: base pairs 33,129,243 to 33,606,067

The BBS9 gene is located on the short (p) arm of chromosome 7 at position 14.

The BBS9 gene is located on the short (p) arm of chromosome 7 at position 14.

More precisely, the BBS9 gene is located from base pair 33,129,243 to base pair 33,606,067 on chromosome 7.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about BBS9?

You and your healthcare professional may find the following resources about BBS9 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the BBS9 gene or gene products?

  • B1
  • C18
  • D1
  • PTHB1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding BBS9?

autosomal ; autosomal recessive ; carrier ; cilium ; congenital ; diabetes ; diabetes mellitus ; gene ; GTP ; hormone ; hypertension ; inheritance ; isoforms ; locus ; malformation ; mental retardation ; parathyroid ; polydactyly ; recessive ; renal ; syndrome ; transcript ; translocation ; tumor ; Wilms tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: November 24, 2014