RFLNA wt Allele

Preferred Label : RFLNA wt Allele;

NCIt synonyms : Family With Sequence Similarity 101, Member A Gene; FLJ44614; Refilin A wt Allele; FAM101A; CFM2;

NCIt definition : Human RFLNA wild-type allele is located in the vicinity of 12q24.31 and is approximately 343 kb in length. This allele, which encodes refilin-A protein, plays a role in actin filament bundle organization, bone mineralization and chondrocyte differentiation. A pattern of six unmethylated CpG islands in this locus is a cell type-specific marker for cardiomyocytes.;

NCI Metathesaurus CUI : CL1920462;

GenBank Accession Number : NM_181709;

Details

Origin ID

C201538;

UMLS CUI

C5849114;

OMIM relation
- Refilin a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
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
- 12q24.31 [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Ligand Binding [NCIt concept]
- Mineralization [NCIt concept]
- Negative Regulation of Cell Differentiation [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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