HCLS1-associated protein X-1
| HCLS1-associated protein X-1 | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 14–32 kilodaltons / 124–287 amino acids (depending on isoform) | |
| Isoforms | 6th | |
| Identifier | ||
| Gene names | HAX1 HS1BP1 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Chordates | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 10456 | 23897 |
| Ensemble | ENSG00000143575 | ENSMUSG00000027944 |
| UniProt | O00165 | O35387 |
| Refseq (mRNA) | NM_001018837 | NM_001282032 |
| Refseq (protein) | NP_001018238 | NP_001268961 |
| Gene locus | Chr 1: 154.27 - 154.28 Mb | Chr 3: 90 - 90 Mb |
| PubMed search | 10456 |
23897
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HAX 1 is a protein of the people .
Mutations in HAX 1 cause Kostmann's syndrome, also known as severe congenital neutropenia . There is a blood formation disorder with maturation disorders of granulopoiesis , which is usually noticed shortly after birth.
Individual evidence
- ↑ InterPro : IPR017248 HS1-associating, X-1 (English)
- ↑ C. Klein, M. Grudzien, G. Appaswamy, M. Germeshausen, I. Sandrock, AA Schäffer, C. Rathinam, K. Boztug, B. Schwinzer, N. Rezaei, G. Bohn, M. Melin, G. Carlsson, B. Fadeel, N. Dahl, J. Palmblad, JI Henter, C. Zeidler, B. Grimbacher, K. Welte: HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). In: Nat Genet. 39 (1), 2007, pp. 86-92. PMID 17187068
Web links
- HAX1: A psoriasis-associated gene (dissertation) (PDF; 2.3 MB)