KAT8 Regulatory NSL Complex, Subunit 1

Alternative Names

KANSL1
MSL1V1
KIAA1267

Length

195,474 bases

No. of Exons

No. of isoforms

Protein Name

KAT8 regulatory NSL complex subunit 1

Molecular Mass

121025 Da

Amino Acid Count

1105

Genomic Location

chr17:46,029,916-46,225,389

Gene Map Locus

17q21.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001193466.2:c.808_809delCT	Lebanon	NC_000017.11:g.46171335_46171336del	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Koolen-De Vries Syndrome	NG_032784.1:g.59039_59040del; NM_001193466.2:c.808_809delCT; NP_001180395.1:p.Leu270ValfsTer11	551541795	468412

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External Links

https://ghr.nlm.nih.gov/gene/KANSL1 https://www.genecards.org/cgi-bin/carddisp.pl?gene=KANSL1 https://www.ncbi.nlm.nih.gov/gene?term=284058

Contributors

Pratibha Nair: 15.04.2020

Edit History

Pratibha Nair: 15.04.2020

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