label: HSPH1 T17 Repeat
label_lc: hsph1 t17 repeat
description: "A mononucleotide DNA repeat consisting of 17 thymine bases, which is found within intron 8 of the human HSPH1 gene. Variation in, or somatic mutation of this region causes the expression of an aberrant HSPH1 mRNA transcript that is missing exon 9 (HSPH1-deltaE9), which encodes a protein that lacks the HSPH1 substrate binding domain."