Nipped-B homolog (Drosophila) (NIPBL)
Name: NIPBL
Description: Nipped-B homolog (Drosophila)
Orgname: Homo sapiens
Status: 0
CurrentID: 0
Chromosome: 5
GeneticSource: genomic
MapLocation: 5p13.2
OtherAliases: CDLS, CDLS1, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, FLJ44854, IDN3, IDN3-B, Scc2
OtherDesignations: SCC2 homolog|delangin|nipped-B-like|sister chromatid cohesion 2 homolog
NomenclatureSymbol: NIPBL
NomenclatureName: Nipped-B homolog (Drosophila)
NomenclatureStatus: Official
TaxID: 9606
Mim:
GenomicInfo:
GeneWeight: 5438
Summary: 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]
ChrSort: 05
ChrStart: 36876860
UniProtein db: NIPBL UniProt protein knowledge database
Ensembl db: NIPBL Ensembl genome database
The NIPBL gene provides instructions for making a protein called delangin. ... How are changes in the NIPBL gene related to health conditions? ...
Complete information for NIPBL gene (protein-coding), Nipped-B homolog (Drosophila) ... This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and ...
Ben-Asher E, Lancet D. NIPBL gene responsible for Cornelia de Lange ... NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype ...
Mutations in the NIPBL gene have been identified in ~40% of reported ... Mutations affecting this region of the gene might be associated with a milder phenotype. ...
by Mutations in NIPBL, the human homolog of the Drosophila Nipped-B gene. ... not have a risk for future affected children, and the change in the NIPBL gene in that child is ...
Human protein-coding gene NIPBL. Represented by 360 ESTs from 191 cDNA libraries. ... Tissues and development stages from this gene's sequences survey gene expression. ...
Two intragenic NIPBL deletions and one contiguous gene syndrome detected by MLPA in CdLS patients. ... We screened for NIPBL and SMC1L1 mutations the first Italian cohort ...
Mouse protein-coding gene Nipbl. Represented by 284 ESTs from 127 cDNA libraries. ... Tissues and development stages from this gene's sequences survey gene expression. ...
frameshift and splicing mutations have been identified in the NIPBL gene. ... We offer full gene sequencing of the entire coding region for NIPBL and SMC1A. ...
The Nipped-B and NIPBL genes encode a protein that is needed for basic cellular functions. ... one Y chromosome), and therefore have two copies of the NIPBL gene. ...
CdLS is caused by a mutation or change in the NIPBL or SMC1A genes. ... CdLS have a change in one copy of the NIPBL gene that can be found by sequencing, and approximately 2% of ...
Human gene symbol report page for 'NIPBL - Nipped-B homolog (Drosophila)
Both missense and protein-truncating mutations in NIPBL, the human homolog of the. Drosophila melanogaster Nipped-B gene, have recently been reported to cause CdLS. ...
About half of the patients with CdLS carry mutations in the NIPBL gene encoding the NIPBL protein, a subunit of the Cohesin loading complex. ...
The only genes that have been found to be associated with Cornelia de ... Prenatal diagnosis is available if a specific NIPBL or SMC1L1 gene mutation has been identified. ...