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BBS10 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BBS10 gene

The BBS10 gene encodes a chaperonin-like protein that helps fold and stabilize proteins necessary for the development and function of cilia.

Normal Function

The BBS10 gene provides instructions for making a protein found in many types of cells. The BBS10 protein functions as a chaperonin, a group of proteins that help fold other proteins into their correct 3-dimensional shapes to ensure they function properly.

Studies suggest that the BBS10 protein helps fold or stabilize specific proteins required for the normal formation of cilia. Cilia are microscopic, finger-like projections on the surface of many cells involved in cell movement, chemical signaling, and the perception of sensory input, including sight, hearing, and smell.

Health Conditions Related to Genetic Changes

Bardet-Biedl syndrome

More than 35 mutations in the BBS10 gene have been found to cause Bardet-Biedl syndrome, accounting for about 20 percent of all cases. Some mutations change single amino acids, while others add or delete genetic material. The most common mutation, C91fsX95, leads to the production of an abnormally short version of the BBS10 protein.

A malfunctioning BBS10 protein affects the formation and function of cilia. These defects disrupt chemical signaling pathways during development, leading to the characteristic features of Bardet-Biedl syndrome, which include:

  • Vision loss
  • Obesity
  • Polydactyly (extra fingers and/or toes)
  • Kidney abnormalities
  • Intellectual disability

Genomic Location

The BBS10 gene is found on chromosome 12.

Frequently Asked Questions

Diagnostic confirmation typically involves a multigene panel for ciliopathies or whole‑exome sequencing that includes the BBS10 gene. If a pathogenic variant is found, Sanger sequencing may be used for confirmation and for targeted testing of family members.
Early clues often appear in the first two years of life and include retinal dystrophy (poor visual tracking or night blindness), unexplained obesity, and extra digits (polydactyly). Kidney ultrasound abnormalities may also be detected incidentally during routine imaging.
Heterozygous carriers are usually asymptomatic, though rare reports suggest mild metabolic or visual anomalies. Bardet‑Biedl syndrome follows an autosomal‑recessive pattern, so each pregnancy of two carrier parents has a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier.
Vision care involves regular ophthalmology visits, low‑vision aids, and, when appropriate, retinal gene‑therapy trials. Kidney disease is monitored with serum creatinine, urine protein checks, and blood pressure control; nephrology referral is advised early, and dialysis or transplant may be needed in advanced cases.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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