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LOC106799833 CYP11B1 recombination region [ Homo sapiens (human) ]

Gene ID: 106799833, updated on 10-Oct-2023

Summary

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Gene symbol
LOC106799833
Gene description
CYP11B1 recombination region
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif
misc_recomb: meiotic, non_allelic_homologous
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the CYP11B2 recombination region, located about 34 kb centromere-distal to this region, in direct orientation on the reference genome. Duplications and deletions of the intervening sequence as a result of NAHR between these recombination regions have been observed. Duplications can result in a chimeric CYP11B1-CYP11B2 gene, and is a cause of familial hyperaldosteronism type I (FH-1), an autosomal dominant disorder characterized by an overproduction of aldosterone, causing hypertension. The chimeric CYP11B1-CYP11B2 gene displays aldosterone synthase activity that is regulated by adrenocorticotropic hormone (ACTH) rather than angiostensin II. This disorder is also known as glucocorticoid-remediable aldosteronism (GRA) since it can be treated by administering glucocorticoids. NAHR events between this region and the CYP11B2 recombination region can also result in deletions of the intervening sequence, and formation of a CYP11B2-CYP11B1 chimeric gene, and can be a cause of 11-beta-hydroxylase congenital adrenal hyperplasia (11beta-OH CAH), an autosomal recessive disorder. The CYP11B2-CYP11B1 chimera is regulated by angiotensin II and potassium, instead of ACTH. HapMap data indicates that there is a slight elevation in meiotic recombination frequencies in this region. [provided by RefSeq, Oct 2016]
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Genomic context

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See LOC106799833 in Genome Data Viewer
Location:
8q21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (142874234..142879022)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144017569..144022357)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (143955650..143960438)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene glycosylphosphatidylinositol anchored molecule like Neighboring gene zinc finger HIT-type containing 1 pseudogene 1 Neighboring gene cytochrome P450 family 11 subfamily B member 1 Neighboring gene CYP11B1 promoter Neighboring gene CYP11B2 recombination region Neighboring gene cytochrome P450 family 11 subfamily B member 2 Neighboring gene CYP11B2 promoter Neighboring gene uncharacterized LOC105375794

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The molecular basis of primary aldosteronism: from chimeric gene to channelopathy. Lenzini L, et al. Curr Opin Pharmacol, 2015 Apr. PMID 25555247
  2. Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. Zhao LQ, et al. World J Pediatr, 2008 May. PMID 18661760
  3. Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele. Kuribayashi I, et al. Horm Res, 2005. PMID 16024935
  4. Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase). Ezquieta B, et al. Clin Genet, 2004 Sep. PMID 15324322
  5. Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia. Portrat S, et al. J Clin Endocrinol Metab, 2001 Jul. PMID 11443188

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • cytochrome P450, family 11, subfamily B, polypeptide 1 recombination region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046132.1 

    Range
    101..4889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    142874234..142879022
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    144017569..144022357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
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