About: ATP7A 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
  • ATP7A wt Allele
rdfs:subClassOf
OMIM_Number
  • 300011
GenBank_Accession_Number
  • L06133
Semantic_Type
  • Gene or Genome
Preferred_Name
  • ATP7A wt Allele
UMLS_CUI
  • C2699122
EntrezGene_ID
  • 538
Legacy_Concept_Name
  • ATP7A_wt_Allele
HGNC_ID
  • HGNC:869
FULL_SYN
  • ATPase, Cu++ Transporting, Alpha Polypeptide (Menkes Syndrome) wt AlleleSYNCI
  • MKSYNCI
  • ATP7A wt AllelePTNCI
  • MNKSYNCI
  • FLJ17790SYNCI
DEFINITION
  • Human ATP7A wild-type allele is located within Xq13.2-q13.3 and is approximately 139 kb in length. This allele, which encodes copper-transporting ATPase 1 protein, plays a role in the localization of copper ions. Mutations in the gene are associated with both Menkes disease and occipital horn syndrome.NCIUniProt
code
  • C74974
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 48 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software