ASH2L
Description
The ASH2L (ASH2 like, histone lysine methyltransferase complex subunit) is a protein-coding gene located on chromosome 8.
ASH2L is a human gene that encodes the ASH2 protein, a subunit of the Set1/Ash2 histone methyltransferase complex. ASH2L has been shown to interact with MLL.
ASH2L is a transcriptional regulator that functions as a component of histone methyltransferase complexes. These complexes regulate transcription by recruiting themselves to gene promoters. Specifically, ASH2L is a component of the Set1/Ash2 histone methyltransferase (HMT) complex, which methylates 'Lys-4' of histone H3. This methylation only occurs if the neighboring 'Lys-9' residue is not already methylated. ASH2L is also a part of the MLL1/MLL complex, where it contributes to methylation and dimethylation at 'Lys-4' of histone H3. In addition, ASH2L, in association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of several proteins, including KMT2A, KMT2B, KMT2C, KMT2D, SETD1A, and SETD1B. It is also thought to play a role in hematopoiesis.
ASH2L is also known as ASH2, ASH2L1, ASH2L2, Bre2.
Associated Diseases
- endometrial cancer
- congenital lipoid adrenal hyperplasia due to STAR deficency
- congenital adrenal hyperplasia
- glioblastoma
- acroleukopathy, symmetric
- familial progressive hyperpigmentation
- hyperpigmentation with or without hypopigmentation, familial progressive
- Tietz syndrome
- cancer
