HSPH1 T17 Repeat

Preferred Label : HSPH1 T17 Repeat;

NCIt synonyms : HSP105 T17 Repeat; HSP110 T17 Repeat; HSP110 T17; HSPH1 T17; HSP105 T17;

NCIt 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.;

PubMed : 21946539;

Details

Origin ID

C116969;

UMLS CUI

C3898990;

Semantic type(s)
- Nucleotide Sequence [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
related_to_genetic_biomarker
- HSPH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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