KANSL1 KAT8 regulatory NSL complex subunit 1
Gene ID: 284058, updated on 28-Oct-2024Gene type: protein coding
Also known as: KDVS; NSL1; MSL1v1; CENP-36; hMSL1v1; KIAA1267; DEL17Q21.31; C17DELq21.31
- See all available tests in GTR for this gene
- Go to complete Gene record for KANSL1
- Go to Variation Viewer for KANSL1 variants
Summary
This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at 6q22 and 17q21 are associated with intracranial volume. GeneReviews: Not available | |
| Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. GeneReviews: Not available | |
| Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. GeneReviews: Not available | |
| Koolen-de Vries syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2013-04-11) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-04-11) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 17q21.31
- Sequence:
- Chromosome: 17; NC_000017.11 (46029916..46225367, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KANSL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KANSL1 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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