Gene: EHMT1

Alternate names for this Gene: EHMT1-IT1|EUHMTASE1|Eu-HMTase1|FP13812|GLP|GLP1|KLEFS1|KMT1D

Gene Summary: The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: euchromatic histone lysine methyltransferase 1

Type of Gene: protein-coding

rs886037776 in EHMT1 gene and Autism Spectrum Disorders PMID 27651234 2016 Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.

rs35528310 in EHMT1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs137852720 in EHMT1 gene and Dysmorphic features PMID 26808425 2016 A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

PMID 29160022 2018 First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.

PMID 24779060 2014 If not Angelman, what is it? A review of Angelman-like syndromes.

PMID 19264732 2009 Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

PMID 16826528 2006 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

PMID 22670141 2012 Update on Kleefstra Syndrome.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 15805155 2005 Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

rs137852714 in EHMT1 gene and KLEEFSTRA SYNDROME 1 PMID 19264732 2009 Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

PMID 16826528 2006 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

PMID 22670141 2012 Update on Kleefstra Syndrome.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 27651234 2016 Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.

rs1554879633 in EHMT1 gene and Muscle hypotonia PMID 24779060 2014 If not Angelman, what is it? A review of Angelman-like syndromes.

PMID 29160022 2018 First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.

PMID 26808425 2016 A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

PMID 15805155 2005 Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 22670141 2012 Update on Kleefstra Syndrome.

PMID 16826528 2006 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

PMID 19264732 2009 Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.