Search for a gene
EPS15L1 - epidermal growth factor receptor pathway substrate 15 like 1
- Synonym(s) : eps15R
- Previous symbols and names : epidermal growth factor receptor pathway substrate 15-like 1
- Type : gene with protein product
- Chromosomal location : 19p13.11
- OMIM: 616826
- HGNC: 24634
- UniProtKB: Q9UBC2
- Genatlas: EPS15L1
- Ensembl: ENSG00000127527
- IUPHAR-DB: -
- Reactome: Q9UBC2
- LOVD: EPS15L1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Isolated split hand-split foot malformation
ORPHA:2440 
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional 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.