arginine and serine rich coiled-coil 1
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
Has a role in alternative splicing and transcription regulation (PubMed:29522154). Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing.
From NCBI Gene:
- INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
Intellectual developmental disorder, autosomal recessive 70 (MRT70): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients. [MIM:618402]