MEGF8 wt Allele

Preferred Label : MEGF8 wt Allele;

NCIt synonyms : KIAA0817; EGF-Like-Domain, Multiple 4 Gene; FLJ22365; HBV Pre-S2 Binding Protein 1 Gene; SBP1; Hepatitis B Virus Pre-S2-Binding Protein 1 Gene; HBV Pre-S2-Binding Protein 1 Gene; Multiple EGF-Like-Domains 8 Gene; EGFL4; HBV Pre S2 Binding Protein 1 Gene; C19orf49; CRPT2; Chromosome 19 Open Reading Frame 49 Gene; EGF-Like Domain-Containing Protein 4 Gene; Epidermal Growth Factor-Like 4 Gene; Multiple EGF Like Domains 8 wt Allele;

NCIt definition : Human MEGF8 wild-type allele is located in the vicinity of 19q13.2 and is approximately 53 kb in length. This allele, which encodes multiple epidermal growth factor-like domains protein 8, is involved in the downregulation of the hedgehog signaling pathway. Mutations in the gene are associated with Carpenter syndrome 2.;

GenBank Accession Number : AB011541;

Details

Origin ID

C213508;

OMIM relation
- Multiple epidermal growth factor-like domains 8 [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.2 [NCIt concept]
gene_is_element_in_pathway
- Hedgehog Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Morphogenesis [NCIt concept]
- Pattern Formation [NCIt concept]
- Signal Transduction [NCIt concept]

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