Recombinant Human Contactin-associated protein 1 (CNTNAP1), partial

Function

Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction.

Biological Context

Subcellular Location: Membrane (Single-pass type I membrane protein); Cell junction, paranodal septate junction
Tissue Specificity: Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung, heart, intestine and testis
Disease Association: Lethal congenital contracture syndrome 7 (LCCS7) : A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period. [The disease is caused by variants affecting the gene represented in this entry] | Neuropathy, congenital hypomyelinating, 3 (CHN3) : A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN3 is a severe autosomal recessive form characterized by onset of neurogenic muscle impairment in utero. Affected individuals have profoundly impaired psychomotor development and may die in infancy or early childhood. [The disease is caused by variants affecting the gene represented in this entry]

Product Specifications

Recombinant Human Contactin-associated protein 1 (CNTNAP1), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 26-356aa, with N-terminal 6xHis-SUMO-tagged tag, molecular weight 53.8kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.