CNTNAP1

CNTNAP1 (Contactin Associated Protein 1) is a Protein Coding gene. Diseases associated with CNTNAP1 include Lethal Congenital Contracture Syndrome 7 and Hypomyelination Neuropathy-Arthrogryposis Syndrome. Among its related pathways are L1CAM interactions and Developmental Biology. Gene Ontology (GO) annotations related to this gene include receptor activity and SH3/SH2 adaptor activity. An important paralog of this gene is CNTNAP2.

Full Name

Contactin Associated Protein 1

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. In association with contactin involved in the signaling between axons and myelinating glial cells.

Biological Process

Cell adhesion Source: UniProtKB-KW
Central nervous system myelination Source: UniProtKB
Cytoskeleton organization Source: BHF-UCL
Myelination in peripheral nervous system Source: UniProtKB
Neuromuscular process controlling balance Source: Ensembl
Neuromuscular process controlling posture Source: Ensembl
Neuronal action potential propagation Source: BHF-UCL
Neuron projection morphogenesis Source: UniProtKB
Paranodal junction assembly Source: UniProtKB
Protein localization to juxtaparanode region of axon Source: UniProtKB
Protein localization to paranode region of axon Source: BHF-UCL
Signal transduction Source: ProtInc

Cellular Location

Membrane; Paranodal septate junction

Involvement in disease

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.
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.

Topology

Extracellular: 20-1283
Helical: 1284-1304
Cytoplasmic: 1305-1384