Nipped-B-like protein also known as delangin or SCC2 homolog 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 NIPBL 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...

.

Function

This gene encodes the homolog of the Drosophila melanogaster

Drosophila melanogaster

Drosophila melanogaster is a species of Diptera, or the order of flies, in the family Drosophilidae. The species is known generally as the common fruit fly or vinegar fly. Starting from Charles W...

Nipped-B gene product and fungal Scc2-type sister chromatid cohesion

Establishment of sister chromatid cohesion

Sister chromatid cohesion refers to the process by which sister chromatids are paired and held together during certain phases of the cell cycle. Establishment of sister chromatid cohesion is the process by which chromatin-associated cohesin protein becomes competent to physically bind together the...

 proteins. The Drosophila protein facilitates enhancer

Enhancer (genetics)

In genetics, an enhancer is a short region of DNA that can be bound with proteins to enhance transcription levels of genes in a gene cluster...

-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid

Chromatid

A chromatid is one of the two identical copies of DNA making up a duplicated chromosome, which are joined at their centromeres, for the process of cell division . They are called sister chromatids so long as they are joined by the centromeres...

 cohesion, chromosome condensation, and DNA repair

DNA repair

DNA repair refers to a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as UV light and radiation can cause DNA damage, resulting in as many as 1...

. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat domain

Heat repeat domain

The HEAT repeat domain is a protein domain found in a number of cytoplasmic proteins including the four that the give rise to the acronym HEAT . HEAT repeats form a rod-like helical structures which are involved in intracellular transport....

. Condensin

Condensin

Condensins are large protein complexes that play a central role in chromosome assembly and segregation in eukaryotic cells.- Subunit composition :...

s, cohesin

Cohesin

Cohesin is a protein complex that regulates the separation of sister chromatids during cell division, either mitosis or meiosis.- Structure :...

s and other complexes with chromosome-related functions also contain HEAT repeats.

Clinical significance

Mutations in this gene result in Cornelia de Lange syndrome

Cornelia de Lange Syndrome

Cornelia de Lange Syndrome often termed as Bushy Syndrome is a genetic disorder that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.! Appx...

, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation.

External links

• GeneReviews/NCBI/UW/NIH entry on Cornelia de Lange Syndrome