neuroligin 4 X-linked
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Putative neuronal cell surface protein involved in cell-cell-interactions.
From NCBI Gene:
- Asperger syndrome X-linked 2
- Autism, susceptibility to, X-linked 2
Asperger syndrome, X-linked, 2 (ASPGX2): A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. [MIM:300497]
Autism, X-linked 2 (AUTSX2): A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. [MIM:300495]
Cytogenetic Location: Xp22.32-p22.31, which is the short (p) arm of the X chromosome between positions 22.32 and 22.31
Molecular Location: base pairs 5,890,026 to 6,228,878 on the X chromosome (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)