ALX4 wt Allele

Preferred Label : ALX4 wt Allele;

NCIt synonyms : Aristaless-Like Homeobox 4 wt Allele; KIAA1788; PFM1; PFM2; FPP; PFM;

NCIt definition : Human ALX4 wild-type allele is located in the vicinity of 11p11.2 and is approximately 50 kb in length. This allele, which encodes homeobox protein aristaless-like 4, plays a role in transcriptional regulation. Mutation of the gene is associated with parietal foramina 2.;

NCIt note : Deletion of the chromosomal region in which the ALX4 gene resides is associated with Potocki-Shaffer syndrome. (OMIM and UniProt);

GenBank Accession Number : AF294629;

Details

Origin ID

C74966;

UMLS CUI

C2698717;

OMIM relation
- Aristaless homeobox 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p11.2 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Limb Development [NCIt concept]
- Skeletal Development [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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