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Article

HAX-1: a multifunctional protein with emerging roles in human disease.

Biochimica et biophysica acta - 1 Oct 2009

Fadeel Bengt, Grzybowska Ewa

Abstract excerpt

HS-1-associated protein X-1 (HAX-1) was identified more than 10 years ago as a novel protein with ubiquitous tissue expression and a predominantly mitochondrial localization at the subcellular level. Recent studies have shown that homozygous mutations in the HAX1 gene are associated with autosomal recessive forms of severe congenital neutropenia (also known as Kostmann disease), and results from studies in mice...

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Source

Identifiers

PMID: 19524642
DOI: 10.1016/j.bbagen.2009.06.004

Genes

HAX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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HAX-1: a multifunctional protein with emerging roles in human disease.PMID 19524642Read ↗

HAX1: A versatile, intrinsically disordered regulatory proteinSemantic proximity Read ↗

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).Semantic proximity Read ↗

Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues.Semantic proximity Read ↗

The RNA-binding landscape of HAX1 protein indicates its involvement in ribosome biogenesis and translationSemantic proximity Read ↗

Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).Semantic proximity Read ↗

The RNA-Binding Landscape of HAX1 Protein Indicates Its Involvement in Translation and Ribosome Assembly.Semantic proximity Read ↗

Hax-1 is rapidly degraded by the proteasome dependent on its PEST sequence.Semantic proximity Read ↗

HAX‐1: A family of apoptotic regulators in health and diseaseSemantic proximity Read ↗

A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.Semantic proximity Read ↗

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.Semantic proximity Read ↗

Immunoblotting validation of research antibodies generated against HS1-associated protein X-1 in the human neutrophil model cell line PLB-985.Semantic proximity Read ↗

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.Semantic proximity Read ↗

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