U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ANCR Angelman syndrome chromosome region [ Homo sapiens (human) ]

Gene ID: 282, updated on 17-Oct-2021

Summary

Go to the top of the page Help
Official Symbol
ANCRprovided by HGNC
Official Full Name
Angelman syndrome chromosome regionprovided by HGNC
Primary source
HGNC:HGNC:482
Gene type
other
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Angelman syndrome (AS) is characterized by developmental delay, intellectual disability, movement or balance disorders, seizures, and limitations in speech and language development. Most cases of AS are caused by deletion in the 15q11-q13 region of the maternal chromosome. Prader-Willi syndrome (PWS) is a clinically distinct disorder resulting from paternal deletion of the 15q11-q13 region. Clinical features similar to AS are also shown in chromosome 15q11-q13 duplication syndrome. [provided by RefSeq, Jul 2017]
Annotation information
not in current annotation release
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
15q11-q12

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. The evaluation of 15q proximal duplications by FISH. Riordan D, et al. Clin Genet, 1998 Dec. PMID 9894799
  2. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Cassidy SB, et al. Medicine (Baltimore), 1998 Mar. PMID 9556704
  3. Angelman syndrome. Clayton-Smith J, et al. J Med Genet, 1992 Jun. PMID 1619637, Free PMC Article
  4. Mechanisms of imprinting of the Prader-Willi/Angelman region. Horsthemke B, et al. Am J Med Genet A, 2008 Aug 15. PMID 18627066
  5. Deregulation of long noncoding RNAs ANCR, TINCR, HOTTIP and SPRY4-IT1 in plasma of systemic sclerosis patients: SPRY4-IT1 as a novel biomarker of scleroderma and its subtypes. Abd-Elmawla MA, et al. Cytokine, 2020 Sep. PMID 32442909

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deregulation of long noncoding RNAs ANCR, TINCR, HOTTIP and SPRY4-IT1 in plasma of systemic sclerosis patients: SPRY4-IT1 as a novel biomarker of scleroderma and its subtypes.
    Title: Deregulation of long noncoding RNAs ANCR, TINCR, HOTTIP and SPRY4-IT1 in plasma of systemic sclerosis patients: SPRY4-IT1 as a novel biomarker of scleroderma and its subtypes.
Submit: New GeneRIF Correction

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases
Research Materials