ECEL1 (endothelin-converting enzyme-like 1; previously known as XCE) is a putative zinc metalloprotease that was identified recently on the basis of its strong identity with endothelin-converting enzyme. Although the physiological function of ECEL1 is unknown, inactivation of the corresponding gene in mice points to a critical role of this protein in the nervous control of respiration. In the present study we have characterized the human ECEL1 gene. It was located to region q36-q37 of chromosome 2 and shown to be composed of 18 exons spanning approx. 8 kb. The structure of the ECEL1 gene displays some striking similarities with those of genes of related metallopeptidases, supporting the hypothesis that they are all derived from a common ancestor. A short phylogenetic study describing the relationship between the various members of this gene family is also presented.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220892 | PMC |
Publication Analysis
Top Keywords
Similar Publications
ECEL1 mutation in distal arthrogryposis type 5D: A case report.
Eur J Obstet Gynecol Reprod Biol
February 2025
Department of Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India. Electronic address:
Background: Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis.
Case: A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
Am J Med Genet A
August 2024
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Distal arthrogryposis type 5D (DA5D) is clinically characterized by knee extension contractures, distal joint contractures, clubfoot, micrognathia, ptosis, and scoliosis. We report nine affected individuals from eight unrelated Indian families with DA5D. Although the overall musculoskeletal phenotype is not very distinct from other distal arthrogryposis, the presence of fixed knee extension contractures with or without scoliosis could be an important early pointer to DA5D.
View Article and Find Full Text PDFECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Mol Genet Genomic Med
June 2023
Industrial Biotechnology Research Group, Institute of Biotechnology, Ferdowsi University of Mashhad, Mashhad, Iran.
Article Synopsis
- ECEL1 is linked to an autosomal recessive form of distal arthrogryposis, and the study examined a novel mutation (c.535A>G) identified in a family with affected boys and fetus through prenatal testing.
- Researchers conducted whole-exome sequencing and molecular dynamic simulations to analyze the differences between the normal and mutated ECEL1 proteins, validating the mutation presence in the affected family members.
- The study found significant structural differences in the ECEL1 protein due to the mutation, particularly its inability to bind zinc ions, which contributes to the neurodegenerative disorder, suggesting the findings could enhance our understanding of the mutation's effects on the protein.
Long term ophthalmic complications of distal arthrogryposis type 5D.
Ophthalmic Genet
February 2023
Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Background: Distal Arthrogryposis type 5D (DA5D) is a rare genetic disease, expressed phenotypically by skeletal and ocular abnormalities.
Materials And Methods: Two sisters, ages 42 and 46 years old, were ascertained, both diagnosed with arthrogryposis and unusual ophthalmic late expressions of the disease. They were examined and followed up by both ophthalmologists and medical geneticists.
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Mol Genet Genomics
November 2022
Obstetrics and Gynecology Hospital, Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai, 200438, China.
Article Synopsis
- * This study focused on diagnosing 11 Pakistani families with various HNDs using next-generation sequencing (NGS) to identify genetic variants responsible for their conditions.
- * Researchers uncovered four new genetic variants and confirmed five known variants, highlighting a potential common mutation in the Pakistani population that could simplify future genetic screenings.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!