LOC105943587 proximal CMT1A-REP [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC105943587
Gene description: proximal CMT1A-REP
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 distal CMT1A-REP region, which is located about 1.4 Mb centromere-distal of this region. NAHR between these regions can result in either duplications or deletions of the intervening sequence, including the PMP22 (peripheral myelin protein 22) gene. The region represented here is composed of multiple sub-regions, named Zones 1'-4', that have been identified as NAHR exchange sites in different individuals. The majority of NAHR events have been mapped to a small segment within Zone 1', named the Zone 1' hotspot. Duplication events are the cause of the autosomal dominant Charcot-Marie-Tooth disease typeIA (CMT1A), while the reciprocal deletion is associated with the clinically distinct, hereditary neuropathy with liability to pressure palsies (HNPP), also an autosomal dominant disease. Gene dosage differences of PMP22, a gene that resides between the CMT1A-REP loci, is thought to be the major cause of both disease phenotypes. The majority of de novo CMT1A-REP duplication events have been shown to occur during male gametogenesis, and are thought to be the result of unequal crossover events between homologous chromosomes. A few HNPP deletions resulting from intrachromosomal exchange events during female gametogenesis have also been documented. [provided by RefSeq, Sep 2016]
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17p12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (15567585..15591587)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (15473802..15497811)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (15470899..15494901)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

proximal Charcot-Marie-Tooth type 1A repeat

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.