HAX1 wt Allele

Preferred Label : HAX1 wt Allele;

NCIt synonyms : HS1BP1; HCLS1 Associated Protein X-1wt Allele; HCLS1 (and PKD2) Associated Protein Gene; SCN3; HCLSBP1;

NCIt definition : Human HAX1 wild-type allele is located in the vicinity of 1q21.3 and is approximately 3 kb in length. This allele, which encodes HCLS1-associated protein X-1, is involved in cytokine signaling, clathrin-mediated endocytosis and cytoskeletal remodeling. Mutation of the gene is associated with autosomal recessive severe congenital neutropenia 3 (SCN3; Kostmann disease).;

NCI Metathesaurus CUI : CL1642370;

GenBank Accession Number : U68566;

Details

Origin ID

C176519;

UMLS CUI

C5443977;

Automatic exact mappings (from CISMeF team)
- HCLS1 associated protein X-1 [ORDO Gene]
- Neutropenia, severe congenital, 3, autosomal recessive [OMIM Phenotype]
- severe congenital neutropenia 3 [DO Concept]
OMIM relation
- Hcls1-associated protein x1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q21.3 [NCIt concept]
gene_plays_role_in_process
- Cytokine Signaling Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Granulopoiesis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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