SERF1A wt Allele

Preferred Label : SERF1A wt Allele;

NCIt synonyms : Spinal Muscular Atrophy-Related Gene H4F5 Gene; Small EDRK-Rich Factor 1A wt Allele; H4F5; FAM2A; 4F5; Small EDRK-Rich Factor 1A (Telomeric) Gene; SMAM1; SERF1;

NCIt definition : Human SERF1A wild-type allele is located in the vicinity of 5q13.2 and is approximately 18 kb in length. This allele, which encodes small EDRK-rich factor 1 protein, may be involved in musculoskeletal development.;

NCIt note : The SERF1A gene is part of a 500 kb inverted duplication on chromosome 5q13. SERF1A is telomeric to an identical copy of this gene SERF1B. This chromosomal region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitive nature of this region makes it difficult to determine both its organization and whether mRNA transcripts arise from the SERF1A or SERF1B gene. (EntrezGene); The microsatellite marker C212, which is located in the last intron of SERF1A, is more likely to be deleted in patients with more severe subtypes of spinal muscular atrophy (SMA). (EntrezGene and OMIM);

NCI Metathesaurus CUI : CL937960;

GenBank Accession Number : AF073518;

Details

Origin ID

C158539;

UMLS CUI

C4761363;

Automatic exact mappings (from CISMeF team)
- Small edrk-rich factor 1a [OMIM gene]
OMIM relation
- Small edrk-rich factor 1a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Nervous System Development [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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