About: ALX4 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • ALX4 wt Allele
rdfs:subClassOf
OMIM_Number
  • 605420
GenBank_Accession_Number
  • AF294629
Semantic_Type
  • Gene or Genome
Preferred_Name
  • ALX4 wt Allele
UMLS_CUI
  • C2698717
EntrezGene_ID
  • 60529
Legacy_Concept_Name
  • ALX4_wt_Allele
HGNC_ID
  • HGNC:450
FULL_SYN
  • ALX4 wt AllelePTNCI
  • Aristaless-Like Homeobox 4 wt AlleleSYNCI
  • PFMSYNCI
  • FPPSYNCI
  • PFM1SYNCI
  • PFM2SYNCI
  • KIAA1788SYNCI
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.NCI
DesignNote
  • Deletion of the chromosomal region in which the ALX4 gene resides is associated with Potocki-Shaffer syndrome. (OMIM and UniProt)
code
  • C74966
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