Home
>
Product
>
Antibody
>
Rabbit Anti-IDN3/FITC Conjugated antibody
background:
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-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 cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Function:
Probably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by interacting with the cohesin complex.
Subunit:
Interacts directly with CBX5 via the PxVxL motif.
Subcellular Location:
Nucleus.
Tissue Specificity:
Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in brain, colon, spleen and lung.
DISEASE:
Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the SCC2/Nipped-B family.
Contains 5 HEAT repeats.
Database links:
Entrez Gene: 25836 Human
Entrez Gene: 71175 Mouse
Omim: 608667 Human
SwissProt: Q6KC79 Human
SwissProt: Q6KCD5 Mouse
Unigene: 481927 Human
Unigene: 48329 Mouse
Unigene: 88537 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|