Gene: TTC19

Alternate names for this Gene: 2010204O13Rik|MC3DN2

Gene Summary: This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17p12

Description of this Gene: tetratricopeptide repeat domain 19

Type of Gene: protein-coding

Gene: NCOR1

Alternate names for this Gene: N-CoR|N-CoR1|PPP1R109|TRAC1|hN-CoR

Gene Summary: This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.

Gene is located in Chromosome: 17

Location in Chromosome : 17p12-p11.2

Description of this Gene: nuclear receptor corepressor 1

Type of Gene: protein-coding

rs1075901 in TTC19;NCOR1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.