Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

724066

Name

ATXN8

Synonym

ATXN3;ataxin 8;ATXN8;ataxin 8

Definition

ataxin-8|protein 1C2

Position

13q21

Gene Type

protein-coding

PAH Type

Description

PAH

"We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically."
More detail of all Human literatures about ATXN8

External Links

Links to Entrez Gene

724066

Links to all GeneRIF Items

724066

Links to iHOP

724066

Sequence Information

Nucleotide Sequence

>724066 : length: 3
N/A

Protein Sequence

>724066 : length: 3
N/A



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