SRPX2 wt Allele

Preferred Label : SRPX2 wt Allele;

NCIt synonyms : SRPUL; Sushi-Repeat-Containing Protein, X-Linked 2 wt Allele; SRPX; SRPUL wt Allele;

NCIt definition : Human SRPX2 wild-type allele is located within Xq21.33-q23 and is approximately 38 kb in length. This allele, which encodes sushi repeat-containing protein SRPX2, may play a role in cognitive development. Point mutations in the gene are associated with both bilateral perisylvian polymicrogyria and X-linked rolandic epilepsy with speech dyspraxia and mental retardation.;

GenBank Accession Number : NM_014467;

Details

Origin ID

C54446;

UMLS CUI

C1706348;

OMIM relation
- Sushi repeat-containing protein, X-linked, 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq21.33-q23 [NCIt concept]
gene_plays_role_in_process
- Cell Motility [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Positive Regulation of Angiogenesis [NCIt concept]
- Receptor Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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