FAM111A wt Allele

Preferred Label : FAM111A wt Allele;

NCIt synonyms : GCLEB; FLJ22794; Family With Sequence Similarity 111 Member A Gene; FAM111 Trypsin Like Peptidase A wt Allele; KCS2; KIAA1895;

NCIt definition : Human FAM111A wild-type allele is located in the vicinity of 11q12.1 and is approximately 12 kb in length. This allele, which encodes serine protease FAM111A protein, plays a role in the repair of DNA-protein crosslinks. Mutations in the gene are associated with both Gracile bone dysplasia and Kenny-Caffey syndrome 2.;

NCI Metathesaurus CUI : CL1920484;

GenBank Accession Number : AK092953;

Details

Origin ID

C201156;

UMLS CUI

C5849025;

OMIM relation
- Family with sequence similarity 111, member a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q12 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- DNA Replication [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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