TFB2M
Homo sapiens
Gene Name: transcription factor B2, mitochondrial
Aliases: Hkp1, mtTFB2
Chromosome No: 1
Chromosome Band: 1q44
Genetic Category: Rare single gene variant
Aliases: Hkp1, mtTFB2
Chromosome No: 1
Chromosome Band: 1q44
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 9
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 9
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
A homozygous missense variant in the TFB2M gene (c.790C>T;p.His264Tyr) was identified in two Korean brothers with autism spectrum disorder; functional analysis of this variant demonstrated significantly increased transcription of mitochondrial genes and increased mitochondrial function in patient fibroblasts and transfected primary-cultured fibroblasts (Park et al., 2018).
Molecular Function
This gene encodes a component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT, that is required for basal transcription of mitochondrial DNA.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder
ASD
DD, ID
