TASP1 Chromosome 20
Taspase 1
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What This Gene Does
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]
Associated Conditions (4)
Suleiman-El-Hattab syndrome
Abnormal facial shape
Global developmental delay
Happy demeanor
Key Variants
RS2515530219
Likely pathogenic
Suleiman-El-Hattab syndrome, Suleiman-El-Hattab syndrome
Health Risk
RS867871906
Likely pathogenic
Suleiman-El-Hattab syndrome, Suleiman-El-Hattab syndrome
Health Risk
RS904200599
Likely pathogenic
Abnormal facial shape, Global developmental delay, Happy demeanor
Health Risk
RS1200336864
Pathogenic
Global developmental delay, Suleiman-El-Hattab syndrome, Global developmental delay
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2515530219 | Health Risk | Likely pathogenic | Suleiman-El-Hattab syndrome, Suleiman-El-Hattab syndrome |
| RS867871906 | Health Risk | Likely pathogenic | Suleiman-El-Hattab syndrome, Suleiman-El-Hattab syndrome |
| RS904200599 | Health Risk | Likely pathogenic | Abnormal facial shape, Global developmental delay, Happy demeanor |
| RS1200336864 | Health Risk | Pathogenic | Global developmental delay, Suleiman-El-Hattab syndrome, Global developmental delay |