ASH1L

Chr 1

ASH1 like histone lysine methyltransferase

Also known as: ASH1, ASH1L1, KMT2H, MRD52

NCBI Gene: 55870 ENSG00000116539 UniProt: Q9NR48

The protein is a trithorax group transcriptional activator that localizes to nuclear speckles and cell-cell tight junctions, containing AT hooks, a SET domain, PHD-finger motif, and bromodomain. Loss-of-function mutations cause autosomal dominant intellectual developmental disorder (intellectual developmental disorder, autosomal dominant 52). The gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the pathogenic mechanism.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 52

Clinical highlights

Gene-disease validity (ClinGen)

syndromic complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.06

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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