TBL1XR1 gene

TBL1X receptor 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]

From UniProt:

F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation.

From NCBI Gene:

  • Mental retardation, autosomal dominant 41
  • Pierpont syndrome

From UniProt:

Mental retardation, autosomal dominant 41 (MRD41): 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. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients. [MIM:616944]

Pierpont syndrome (PRPTS): An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling. [MIM:602342]

Cytogenetic Location: 3q26.32, which is the long (q) arm of chromosome 3 at position 26.32

Molecular Location: base pairs 177,019,357 to 177,197,482 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 3q26.32, which is the long (q) arm of chromosome 3 at position 26.32
  • C21
  • DC42
  • IRA1
  • MRD41
  • TBLR1