ASH2L Chromosome 8

ASH2 like, histone lysine methyltransferase complex subunit
1 variant 1 Health Risk

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What This Gene Does
Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"PHD finger proteins|WRAD complex"
Locus Type
gene with protein product
Location
8p11.23
Ensembl
ENSG00000129691
Associated Conditions (2)
Global developmental delay
Intellectual disability
Key Variants
RS1060499744
Likely pathogenic
Global developmental delay, Intellectual disability, Global developmental delay
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS1060499744 Health Risk Likely pathogenic Global developmental delay, Intellectual disability, Global developmental delay
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