Gene: ISM1

Alternate names for this Gene: C20orf82|ISM|Isthmin|bA149I18.1|dJ1077I2.1

Gene Summary:

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.1

Description of this Gene: isthmin 1

Type of Gene: protein-coding

Gene: TASP1

Alternate names for this Gene: C20orf13|SULEHS|dJ585I14.2

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.1

Description of this Gene: taspase 1

Type of Gene: protein-coding

rs911641 in ISM1;TASP1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs76783882 in ISM1;TASP1 gene and Duration of sleep PMID 27126917 2016 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study.