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KANSL1 KAT8 regulatory NSL complex subunit 1

Gene ID: 284058, updated on 5-Sep-2021
Gene type: protein coding
Also known as: KDVS; NSL1; MSL1v1; CENP-36; hMSL1v1; KIAA1267

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 corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
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
MedGen: C1864871OMIM: 610443GeneReviews: 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 Page
Haploinsufficency

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 (46027335..46225370, complement)
Total number of exons:
20

Links

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