Euchromatic Histone Methyltransferase 1

Alternative Names

  • EHMT1
  • Euhmtase1
  • G9A-Like Protein
  • GLP

Associated Diseases

Kleefstra Syndrome
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OMIM Number

607001

NCBI Gene ID

79813

Uniprot ID

Q9H9B1

Length

217,123 bases

No. of Exons

38

No. of isoforms

4

Protein Name

Histone-lysine N-methyltransferase EHMT1

Molecular Mass

141466 Da

Amino Acid Count

1298

Genomic Location

chr9:137,619,004-137,836,126

Gene Map Locus
9q34.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024757.5:c.21+1_21+5delUnited Arab EmiratesNC_000009.12:g.137619050_137619054delLikely PathogenicLikely PathogenicKleefstra SyndromeNG_011776.1:g.5059_5063del; NM_024757.5:c.21+1_21+5del; NP_079033.4:p.?1842769868974820
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