Gene: CNTNAP1

Alternate names for this Gene: CASPR|CHN3|CNTNAP|NRXN4|P190

Gene Summary: The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.2

Description of this Gene: contactin associated protein 1

Type of Gene: protein-coding

rs779027563 in CNTNAP1 gene and Abnormality of subcutaneous fat tissue PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Abnormality of the helix PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Absence of stomach bubble on fetal sonography PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Anteverted nostril PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Atrophy of corpus callosum PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Blepharoptosis PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs72826962 in CNTNAP1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs779027563 in CNTNAP1 gene and Broad eyebrow PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Bulbar palsy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Cerebellar atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Cerebellar vermis atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Cerebral cortical atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Cerebral white matter atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Chronic constipation PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Decreased nerve conduction velocity PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Deglutition Disorders PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Delayed CNS myelination PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Depressed nasal bridge PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Downward slant of palpebral fissure PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Elevated brain lactate level by MRS PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Facial diplegia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Frontal bossing PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Generalized hypotonia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Hand clenching PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Hemangioma PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and High anterior hairline PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and High forehead PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and High, narrow palate PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Hydrocephalus PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Hypoplastic fifth fingernail PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs768554986 in CNTNAP1 gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 7 PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

PMID 27782105 2017 Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

PMID 28374019 2017 CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

PMID 28254648 2017 Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Late closure of anterior fontanel PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Long narrow head PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Low Vision PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Low set ears PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs142029931 in CNTNAP1 gene and Major Depressive Disorder PMID 27777418 2017 The PHF21B gene is associated with major depression and modulates the stress response.

rs779027563 in CNTNAP1 gene and Microcephaly (physical finding) PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Myopathic facies PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs761805324 in CNTNAP1 gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

PMID 29511323 2018 Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

PMID 27818385 2016 Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

PMID 28374019 2017 CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

rs779027563 in CNTNAP1 gene and Narrow forehead PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Neonatal Hypotonia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Neonatal respiratory distress PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Onion bulb formation PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Optic Atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Orbital separation excessive PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Peripheral hypomyelination PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Polyhydramnios PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Poor suck PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Premature Birth PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Premature birth following premature rupture of fetal membranes PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Progressive sensorineural hearing impairment PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Progressive ventriculomegaly PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Recurrent pneumonia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Retinal depigmentation PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Shallow orbits PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Short nose PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Short philtrum PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Sparse and thin eyebrow PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Underdeveloped supraorbital ridges PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs779027563 in CNTNAP1 gene and Undetectable visual evoked potentials PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.