C116969Level 8
HSPH1 T17 Repeat
**Semantic type:** Nucleotide Sequence
**Definition:** 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.
**Synonyms:** - HSP105 T17 - HSP105 T17 Repeat - HSP110 T17 - HSP110 T17 Repeat - HSPH1 T17
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