APTX protein, human

Preferred Label : APTX protein, human;

MeSH note : a member of the histidine triad superfamily that, when mutated, causes early-onset CEREBELLAR ATAXIA with ocular motor APRAXIA and HYPOALBUMINEMIA; amino acid sequence in first source; RefSeq NM_017692;

CISMeF synonym : aprataxin; apratoxin;

MeSH synonym : aprataxin protein, human;

Is substance : O;

Details

Origin ID

C438188;

UMLS CUI

C1143492;

MeSH indexing information
- dna repair [MeSH Descriptor]
- zinc fingers [MeSH Descriptor]
MeSH term(s) associated for indexing
- dna-binding proteins [MeSH Descriptor]
- nuclear proteins [MeSH Descriptor]
Record concept(s)
- APTX protein, human [MeSH concept]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- Aprataxin [NCIt concept]
Validated automatic mappings to NTBT
- Aprataxin [NCIt concept]

Keyword's position in hierarchy(ies) :

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