SETD1A wt Allele

Preferred Label : SETD1A wt Allele;

NCIt synonyms : SET1; SET Domain Containing 1A Gene; SET1A; SET Domain Containing 1A, Histone Lysine Methyltransferase wt Allele; EPEDD; NEDSID; KMT2F; KIAA0339;

NCIt definition : Human SETD1A wild-type allele is located in the vicinity of 16p11.2 and is approximately 27 kb in length. This allele, which encodes histone-lysine N-methyltransferase SETD1A protein, is involved in chromatin remodeling through methylation of histone H3. Mutation of the gene is associated with early onset epilepsy with or without developmental delay and neurodevelopmental disorder with speech impairment and dysmorphic facies.;

NCI Metathesaurus CUI : CL1907421;

GenBank Accession Number : AB002337;

Details

Origin ID

C200409;

OMIM relation
- Set domain-containing protein 1a [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p11.2 [NCIt concept]
gene_is_element_in_pathway
- Lysine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Gene Expression [NCIt concept]
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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