Biology:EPS15L1

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Epidermal growth factor receptor substrate 15-like 1 is a protein that in humans is encoded by the EPS15L1 gene.[1]

Interactions

EPS15L1 has been shown to interact with HRB.[2]

References

  • "First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation". Clin Genet 93 (3): 699–702. 2018. doi:10.1111/cge.13152. PMID 29023680. 

Further reading