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EHMT1

EHMT1

Protein-coding gene in the species Homo sapiens

G9a-like protein (GLP), is a protein that in humans is encoded by the EHMT1 gene. EHMT1 messenger RNA is alternatively spliced to produce three predicted

EHMT1

Kleefstra syndrome

Medical condition

gene sequencing in suggestive cases, Kleefstra and colleagues identified EHMT1 as the causative gene: this gene is responsible for producing the protein

Kleefstra syndrome

Kleefstra_syndrome

Methyl-CpG binding domain protein 5

Protein-coding gene in the species Homo sapiens

Willemsen MH, Koemans TS, Vissers LE, et al. (July 2012). "Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability"

Methyl-CpG binding domain protein 5

Methyl-CpG_binding_domain_protein_5

Histone methyltransferase

Class of enzymes

encoding proteins with histone methyltransferase activity include: ASH1L DOT1L EHMT1, EHMT2, EZH1, EZH2 MLL, MLL2, MLL3, MLL4, MLL5 NSD1 PRDM2 SET, SETBP1, SETD1A

Histone methyltransferase

Histone_methyltransferase

SET domain

Protein family

this domain include: ASH1L, also has an associated with SET domain (AWS) EHMT1 (FP13812), EHMT2 (BAT8), EZH1, EZH2 MLL, MLL2, MLL3, MLL5 NSD1, NSD2, NSD3

SET domain

SET_domain

KMT2C

Protein-coding gene in the species Homo sapiens

Willemsen MH, Koemans TS, Vissers LE, et al. (July 2012). "Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability"

KMT2C

Ankyrin repeat

Protein domain

CTTNBP2; DAPK1; DDEF1; ASAP2; DDEFL1; DGKI; DGKZ; DP58; DYSFIP1; DZANK; EHMT1; EHMT2; ESPN; FANK1; FEM1A; FEM1B; GABPB2; GIT1; GIT2; GLS; GLS2; HACE1;

Ankyrin repeat

Ankyrin_repeat

List of human protein-coding genes 3

HGNC:3245; Q9H223 4795 EHF HGNC:3246; Q9NZC4 4796 EHHADH HGNC:3247; Q08426 4797 EHMT1 HGNC:24650; Q9H9B1 4798 EHMT2 HGNC:14129; Q96KQ7 4799 EI24 HGNC:13276; O14681

List of human protein-coding genes 3

List_of_human_protein-coding_genes_3

List of OMIM disorder codes

245150; MGP Kindler syndrome; 173650; KIND1 Kleefstra syndrome; 610253; EHMT1 Klippel–Feil syndrome, autosomal dominant; 118100; GDF6 Kniest dysplasia;

List of OMIM disorder codes

List_of_OMIM_disorder_codes