About: LMNA wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • LMNA wt Allele
rdfs:subClassOf
OMIM_Number
  • 150330
GenBank_Accession_Number
  • NM_170707
Semantic_Type
  • Gene or Genome
Preferred_Name
  • LMNA wt Allele
UMLS_CUI
  • C1881349
EntrezGene_ID
  • 4000
Legacy_Concept_Name
  • LMNA_wt_Allele
HGNC_ID
  • HGNC:6636
FULL_SYN
  • LMNA wt AllelePTNCI
  • LMN1SYNCI
  • Cardiomyopathy, Dilated 1A (Autosomal Dominant)SYNCI
  • CMD1ASYNCI
  • Lamin-A/C wt AlleleSYNCI
Gene_Encodes_Product
  • Lamin
DEFINITION
  • Human LMNA wild-type allele is located within 1q21.2-q21.3 and is approximately 25 kb in length. This allele, which encodes lamin-A/C protein, plays a role in nuclear stability and chromatin structure. Mutatations in the LMNA gene produce abberant alleles that have been linked to Hutchinson-Gilford progeria syndrome.NCI
code
  • C61149
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