TASP1

Chr 20AR

taspase 1

Also known as: C20orf13, SULEHS, dJ585I14.2

NCBI Gene: 55617 ENSG00000089123 UniProt: Q9H6P5 OMIM: 608270

This endopeptidase cleaves and activates KMT2A/MLL1 and KMT2D/MLL2, which are essential for maintaining HOX gene expression and regulating key cell cycle genes including cyclins and CDKN2A. Biallelic mutations cause Suleiman-El-Hattab syndrome, an autosomal recessive disorder. The gene shows significant constraint against loss-of-function variants (LOEUF 0.424), indicating intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Suleiman-El-Hattab syndromeMIM #618950

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

LOF

Mechanism· G2P