METTL13 wt Allele

Preferred Label : METTL13 wt Allele;

NCIt synonyms : Deafness, Autosomal Recessive 26 Gene; FEAT; DFNB26M; Faint Expression in Normal Tissues, Aberrant Overexpression in Tumors Gene; METTL13; DFNB26; Methyltransferase Like 13 Gene; 5630401D24Rik; CGI-01; Deafness (Recessive, Non-Syndromic) Modifier 1 Gene; KIAA0859; Deafness (Recessive, Nonsyndromic) Modifier 1 Gene; Methyltransferase-Like 13 Gene; eEF1A Lysine and N-Terminal Methyltransferase Gene; Deafness (Autosomal Recessive, Nonsyndromic) Modifier 1 Gene; Methyltransferase 13, eEF1A Lysine and N-Terminal Methyltransferase Gene; DFNM1; Methyltransferase 13, eEF1A N-Terminus and K55 wt Allele;

NCIt definition : Human METTL13 wild-type allele is located in the vicinity of 1q24.3 and is approximately 32 kb in length. This allele, which encodes eEF1A lysine and N-terminal methyltransferase protein, plays a role in the modulation of both apoptosis and protein translation. Mutation of the gene is associated with type 26 autosomal recessive deafness.;

NCI Metathesaurus CUI : CL935950;

GenBank Accession Number : AF132936;

Origin ID

C156931;

UMLS CUI

C4723948;

Automatic exact mappings (from CISMeF team)
- Deafness, autosomal recessive 26 [OMIM Phenotype]
- Deafness, autosomal recessive 26, modifier of [OMIM Phenotype]
- Fever [LOINC component]
- Methyltransferase 13, eef1a lysine and n-terminal methyltransferase [OMIM gene]
- autosomal recessive nonsyndromic deafness 26 [DO Concept]
- deafness, autosomal recessive 26 [MeSH Supplementary Concept]
- fever [MeSH Descriptor]
OMIM relation
- Methyltransferase 13, eef1a lysine and n-terminal methyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q24.3 [NCIt concept]
gene_plays_role_in_process
- Methylation [NCIt concept]
- Negative Regulation of Apoptosis [NCIt concept]
- Protein Methylation [NCIt concept]
- Translation Process [NCIt concept]

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