FREM2 wt Allele

Preferred Label : FREM2 wt Allele;

NCIt synonyms : CRYPTOP; FRASRS2; ECM3 Homolog Gene; FRAS1 Related Extracellular Matrix Protein 2 Gene; FRAS1 Related Extracellular Matrix 2 wt Allele;

NCIt definition : Human FREM2 wild-type allele is located in the vicinity of 13q13.3 and is approximately 200 kb in length. This allele, which encodes FRAS1-related extracellular matrix protein 2, plays a role in epidermal adhesion, renal epithelial integrity and the development of eyelids and the anterior eye segment. Mutations in the gene are associated with Fraser syndrome 2 and isolated cryptophthalmos.;

GenBank Accession Number : BX538150;

Détails

Origin ID

C216146;

OMIM relation
- Fras1-related extracellular matrix protein 2 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 13q13.3 [NCIt concept]
gene_is_element_in_pathway
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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