aptx Summary

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Echinobase

Summary

ECB-GENEPAGE-23055533

Gene Symbol

aptx

Symbol Status

: Curated

Gene Name

aprataxin

Name Status

: Curated

Synonyms:

ataxia 1, early onset with hypoalbuminemia , EOAHA , LOC110981744 , LOC592796 , SPU_018880 [-] ( Nomenclature history )

Gene Function:

Protein Function

Interactants:

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Diseases:

Disease Ontology:

ataxia with oculomotor apraxia type 1

MIM:

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH

External Links:

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD

Symbol legend:

Blast sequence

View sequence

Literature or expression images

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