TMTC3 gene

transmembrane and tetratricopeptide repeat containing 3

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

From NCBI Gene:

This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]

From UniProt:

Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response.

From NCBI Gene:

  • Lissencephaly 8

From UniProt:

Lissencephaly 8 (LIS8): A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive. [MIM:617255]

Cytogenetic Location: 12q21.32, which is the long (q) arm of chromosome 12 at position 21.32

Molecular Location: base pairs 88,142,296 to 88,199,887 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q21.32, which is the long (q) arm of chromosome 12 at position 21.32
  • LIS8
  • SMILE