ECEL1 Antibody

1. Mutation of a conserved residue in ECEL1 is linked with fetal arthrogryposis multiplex congenita. PMID: 25708584
2. Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus with abnormal synkinesis) PMID: 25173900
3. Three novel ECEL1 mutations have been identified in consanguineous pedigrees of Saudi Arabian origin presenting with distal arthrogryposis type 5D. PMID: 23829171
4. A novel missense c.1819G>A mutation (G607S) in the ECEL1 gene has been identified in a consanguineous pedigree of Turkish origin presenting with congenital contracture syndromes. PMID: 23808592
5. We described a new and homogenous phenotype of DA associated with ECEL1 that resulted in symptoms involving rather the peripheral than the central nervous system and suggesting a developmental dysfunction PMID: 23236030
6. Mutations in ECEL1 cause distal arthrogryposis type 5D. PMID: 23261301
7. Sp1 recruits ATF3, c-Jun, and STAT3 to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene PMID: 18192274

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HGNC: 3147

OMIM: 605896

KEGG: hsa:9427

STRING: 9606.ENSP00000302051

UniGene: Hs.26880