Search for a gene
ASXL1 - ASXL transcriptional regulator 1
- Synonym(s) : KIAA0978
- Previous symbols and names : additional sex combs like 1 (Drosophila), additional sex combs like 1, transcriptional regulator
- Type : gene with protein product
- Chromosomal location : 20q11.21
- OMIM: 612990
- HGNC: 18318
- UniProtKB: Q8IXJ9
- Genatlas: ASXL1
- GenCC: ASXL1
- Ensembl: ENSG00000171456
- IUPHAR-DB: -
- Reactome: Q8IXJ9
- LOVD: ASXL1
Diseases list
- Disease-causing germline mutation(s) in Bohring-Opitz syndrome
ORPHA:97297 
- Disease-causing somatic mutation(s) in Acute myeloid leukaemia with myelodysplasia-related features
ORPHA:86845 - Disease-causing somatic mutation(s) in Aggressive systemic mastocytosis
ORPHA:98850 - Disease-causing somatic mutation(s) in Systemic mastocytosis with associated hematologic neoplasm
ORPHA:98849 - Candidate gene tested in Chronic myelomonocytic leukemia
ORPHA:98823
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.