Lysine-Specific Methyltransferase 2C

Alternative Names

  • KMT2C
  • Myeloid/Lymphoid or Mixed-Lineage Leukemia 3
  • MLL3
  • KIAA1506

Associated Diseases

Kleefstra Syndrome 2
Back to search Result
OMIM Number

606833

NCBI Gene ID

58508

Uniprot ID

Q8NEZ4

Length

301,079 bases

No. of Exons

59

No. of isoforms

3

Protein Name

Histone-lysine N-methyltransferase 2C

Molecular Mass

541370 Da

Amino Acid Count

4911

Genomic Location

chr7:152,134,925-152,436,003

Gene Map Locus
7q36.1

Description

The KMT2C gene encodes Lysine-Specific Methyltransferase 2C, a nuclear protein belonging to the myeloid/lymphoid or mixed-lineage leukemia (MLL) family. Similar to all other MLL proteins, KMT2C is activated by a minimized RBBP5–ASH2L heterodimer. The protein functions as an enzyme and is responsible for catalyzing the methylation of the Lysine-4 residue of histone H3. This methylation is necessary for epigenetic transcriptional activation. KMT2C may also function as the catalytic subunit of the MLL2/3 coactivator complex of nuclear receptors, which is involved in transcriptional coactivation.

There have been individual reports of KMT2C gene mutations in patients with Kleefstra Syndrome, a disorder characterized by severe mental retardation, obesity, hypotonia, seizures, microcephaly and facial dysmorphia. However, a direct causal link between this condition and KMT2C mutations has not yet been established.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_170606.3:c.9391C>TUnited Arab EmiratesNC_000007.14:g.152171326G>ALikely PathogenicKleefstra Syndrome 2NG_033948.1:g.269680C>T; NM_170606.3:c.9391C>T; NP_733751.2:p.Gln3131Ter

Other Reports

Saudi Arabia

Monies et al. (2017) studied the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One male patient from a consanguineous family presented with speech and mental delay, learning disability, recurrent fever, seizures and Generalized Tonic-Clonic epilepsy. Using whole exome sequencing a heterozygous mutation (c.6589C>A, p.Q2197K) was identified in exon 36 of the patient’s KMT2C gene. A mutation in the KMT2C gene had previously been tentatively linked to Kleefstra syndrome, and hence this result was seen to confirm this association.

© CAGS 2024. All rights reserved.