LOC108004539 CYP21A1P recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108004539
Gene description: CYP21A1P recombination region
Gene type: biological region
Feature type(s): 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 CYP21A2 recombination region, located about 30 kb centromere-proximal to this region, in direct orientation on the reference genome. Gene conversion events as well as duplications and deletions of the intervening sequence as a result of NAHR between these recombination regions have been observed. Deletions can result in a chimeric CYP21AP-CYP21A2 gene, and is a cause of congenital adrenal hyperplasia (CAH; also known as steroid 21-hydroxylase deficiency), while gene conversion events can result in deficiencies in the cytochrome P450 family 21 subfamily A member 2 gene and is also a cause of CAH. The severity of the disease can depend on the location of the recombination site, with the more severe phenotype resulting from recombination near the 3' end of the gene. This region is composed of multiple sub-regions, named CH-1 - CH-9, with each sub-region representing independent recombination events that result in a different chimeric CYP21AP-CYP21A2 gene. NAHR has been observed most frequently in the CH-1 and CH-5 sub-regions. A meiotic recombination hotspot has also been mapped to this region. This biological region is found within the MHC region, and multiple haplotypes of this region are represented on the GRCh38 reference genome assembly. [provided by RefSeq, Oct 2016]
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Genomic context

Location:: 6p21.3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32005826..32008652)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (31859032..31861858)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31973603..31976429)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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General gene information

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Other Names

cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene 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.