EH Domain Binding Protein 1 Like Protein 1 (EHBP1L1)

EHBP1L1 (EH domain binding protein 1-like 1), alternately known as tangerin in mice, is a 1,523 amino acid protein containing one CH (calponin-homology) domain. EHBP1L1 contains multiple phosphoserine residues and exists as five alternatively spliced isoforms in mice. Additional isoforms of human EHBP1L1 have not been characterized. The gene encoding EHBP1L1 maps to murine chromosome 19 A and human chromosome 11q13.1. Chromosome 11 houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.