SHROOM2 wt Allele

Preferred Label : SHROOM2 wt Allele;

NCIt synonyms : Apical Protein, Xenopus laevis-Like Gene; HSAPXL; Apical Protein-Like (Xenopus laevis) Gene; Shroom Family Member 2 wt Allele; APXL;

NCIt definition : Human SHROOM2 wild-type allele is located in the vicinity of Xp22.3 and is approximately 163 kb in length. This allele, which encodes protein Shroom2, may be involved in the modulation of cell shape. Deletion of the gene may be associated with ocular albinism type 1.;

GenBank Accession Number : X83543;

Details

Origin ID

C118552;

UMLS CUI

C3889722;

Automatic exact mappings (from CISMeF team)
- Shroom family member 2 [OMIM gene]
OMIM relation
- Shroom family member 2 [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
- Xp22.3 [NCIt concept]
gene_plays_role_in_process
- Eye Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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