EMILIN1
Function
May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.
Involvement in disease
Neuronopathy, distal hereditary motor, autosomal dominant 10
HMND10
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND10 is characterized by length-dependent motor neuropathy primarily affecting the lower limbs, and onset of distal muscle weakness and atrophy in early childhood resulting in walking difficulties and gait abnormalities. Some affected individuals have pyramidal signs, including hyperreflexia. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Distributed in tissues where resilience and elastic recoil are prominent. Highest levels in the adult small intestine, aorta, lung, uterus, and appendix and in the fetal spleen, kidney, lung, and heart; intermediate expression was detected in adult liver, ovary, colon, stomach, lymph node and spleen; adult heart, bladder, prostate, adrenal gland, mammary gland, placenta and kidney showed low expression whereas a series of other adult tissues, including skeletal muscle and different regions of adult brain show no expression. Detected in intramuscular nerve bundles, where it particularly localizes in the epineurium, the most external layer of dense connective tissue enclosing the nerve (PubMed:31978608).
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
- Found mainly at the interface between amorphous elastin and microfibrils.
Alternative names
EMI, EMILIN1, EMILIN-1, Elastin microfibril interface-located protein 1, Elastin microfibril interfacer 1