Limbin (LBN) is a protein that is part of the EvC complex that consists of EvC and EvC2 genes, the activity of which is critical in bone formation and skeletal development. The complex positively regulates ciliary
Hedgehog (Hh) signaling due to the ciliary localization.
A mutation in these genes is associated with
The Ellis-van Creveld (EvC) syndrome. EvC or otherwise known as Chondroestodermal dysplasia is a disorder inherited by the offspring of carriers of the mutated recessive gene and a non-mutated dominant gene leading to expression of
chondrodysplasia and
dwarfism
Dwarfism is a condition of people and animals marked by unusually small size or short stature. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is . '' ...
. Bone growth occurs due to continuous proliferation and differentiation of chondrocytes along with
endochondral ossification
Endochondral ossification is one of the two essential pathways by which bone tissue is produced during fetal development and bone healing, bone repair of the mammalian skeleton, skeletal system, the other pathway being intramembranous ossificatio ...
at both ends of a long bone.
The mutations in LBN cause premature termination of encoded proteins resulting in shortening of long bones.
Other characteristics accredited to a mutation in LBN include difficulty breathing due to shorted ribs, shortened tongue, dysplastic fingernails, and
postaxial polydactyly.
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