KMT2C

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MLL3
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KMT2C
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_021230
NM_170606

NM_001081383
NM_177283

RefSeq (protein)

NP_733751

n/a

Location (UCSC)Chr 7: 152.13 – 152.44 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Lysine N-methyltransferase 2C (KMT2C) also known as myeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3) is an enzyme that in humans is encoded by the KMT2C gene.[4][5]

Function

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an

RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[5]

Interactions

MLL3 has been shown to

Clinical significance

Mutations of the KMT2C gene cause Kleefstra syndrome-2, a neurodevelopmental disorder first described in 2012.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000055609 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. PMID 10819331
    .
  5. ^ a b "Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3".
  6. ^
    PMID 12482968
    .
  7. .

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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