BBS4
Encyclopedia
Bardet-Biedl syndrome
4 protein is a protein
that in humans is encoded by the BBS4 gene
.
This gene encodes a protein which contains tetratricopeptide
repeats (TPR), similar to O-linked N-acetylglucosamine transferase
. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome
type 4. The encoded protein may play a role in pigmentary retinopathy, obesity
, polydactyly
, renal
malformation and mental retardation
.
Bardet-Biedl syndrome
The Bardet–Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.-Summary of the...
4 protein is a protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the BBS4 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
This gene encodes a protein which contains tetratricopeptide
Tetratricopeptide
The tetratricopeptide repeat is a structural motif. It consists in a degenerate 34 amino acid sequence motif identified in a wide variety of proteins. It is found in tandem arrays of 3–16 motifs, which form scaffolds to mediate protein–protein interactions and often the assembly of multiprotein...
repeats (TPR), similar to O-linked N-acetylglucosamine transferase
OGT (gene)
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit is an enzyme that in humans is encoded by the OGT gene.-Interactions:OGT has been shown to interact with Host cell factor C1 and SIN3A.-Further reading:...
. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome
Bardet-Biedl syndrome
The Bardet–Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.-Summary of the...
type 4. The encoded protein may play a role in pigmentary retinopathy, obesity
Obesity
Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems...
, polydactyly
Polydactyly
Polydactyly or polydactylism , also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes....
, renal
Kidney
The kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
malformation and mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
.