LEMD3 wt Allele

Preferred Label : LEMD3 wt Allele;

NCIt synonyms : LEM Domain Containing 3 wt Allele; MAN1;

NCIt definition : Human LEMD3 wild-type allele is located in the vicinity of 12q14.3 and is approximately 79 kb in length. This allele, which encodes inner nuclear membrane protein Man1, plays a role in the downregulation of transforming growth factor beta (TGF-B) receptor signaling. Mutations in the gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.;

NCI Metathesaurus CUI : CL545769;

GenBank Accession Number : AF263918;

Details

Origin ID

C147953;

UMLS CUI

C4553521;

Automatic exact mappings (from CISMeF team)
- LEM domain containing 3 [ORDO Gene]
- Lem domain-containing protein 3 [OMIM gene]
OMIM relation
- Lem domain-containing protein 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q14.3 [NCIt concept]
gene_plays_role_in_process
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Signal Transduction Inhibition [NCIt concept]

Keyword's position in hierarchy(ies) :

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