BbsI has a High Fidelity version BbsI-HF ® (NEB #R3539). High Fidelity (HF) Restriction Enzymes have 100% activity in rCutSmart Buffer; single-buffer simplicity means more straightforward and streamlined sample processing. HF enzymes also exhibit dramatically reduced star activity.

Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.

Jul 14, 2003 · Bardet-Biedl syndrome (BBS) is a multisystem non-motile ciliopathy primarily characterized by retinal cone-rod dystrophy, obesity and related complications, postaxial polydactyly, cognitive impairment, hypogonadotropic hypogonadism and/or genitourinary malformations, and renal malformations and/or renal parenchymal disease.

Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes are known or suspected to play critical roles in cell structures called cilia. …

The BBS1 gene provides instructions for making a protein found in cells throughout the body. The BBS1 protein is part of a group (complex) of proteins that plays a critical role in the formation of cell structures called cilia.

Jul 12, 2022 · Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen. …

Sep 16, 2024 · Symptoms of BBS are typically present at birth or develop within the first year of life. Although symptoms can vary from person to person, the condition is typically defined by six key features....

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. [5][6][7] BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet–Biedl syndrome.

The Bardet Biedl Syndrome Foundation is dedicated to improving the lives of individuals and families affected by the rare disease, Bardet Biedl Syndrome (BBS).

Mar 28, 2025 · BBS1 (Bardet-Biedl Syndrome 1) is a Protein Coding gene. Diseases associated with BBS1 include Bardet-Biedl Syndrome 1 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance …