NIPBL

From Wikipedia, the free encyclopedia
Jump to: navigation, search
NIPBL
Identifiers
Aliases NIPBL, CDLS, CDLS1, IDN3, IDN3-B, Scc2, cohesin loading factor
External IDs OMIM: 608667 MGI: 1913976 HomoloGene: 15850 GeneCards: NIPBL
Genetically Related Diseases
obesity[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015384
NM_133433

NM_027707
NM_201232

RefSeq (protein)

NP_056199
NP_597677

NP_081983.2
NP_957684.1
NP_081983
NP_957684

Location (UCSC) Chr 5: 36.88 – 37.07 Mb Chr 15: 8.29 – 8.44 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Nipped-B-like protein (NIPBL), also known as delangin or SCC2 homolog is a protein that in humans is encoded by the NIPBL gene.[4]

Function[edit]

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 domain. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats.[4]

Clinical significance[edit]

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.[4]

References[edit]

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.