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LOC105980078 IGHD type 1A-2 recombination region [ Homo sapiens (human) ]

Gene ID: 105980078, updated on 10-Oct-2023

Summary

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Gene symbol
LOC105980078
Gene description
IGHD type 1A-2 recombination region
Gene type
biological region
Feature type(s)
misc_recomb: 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 region, the IGHD type 1A-1 repeat region, which is located about 3 kb upstream of this region. NAHR between these regions can result in deletions of the intervening sequence, including the GH1 (growth hormone 1) gene. The most common deletion is a 6.6-6.7 kb deletion, but other deletions including 7.0, 7.6, and 45 kb deletions have also been observed. The recombination region represented here is composed of multiple sub-regions, named a', b', and c', that have been identified as NAHR exchange sites in different individuals. NAHR events involving sub-region a' can result in a 7.6 kb deletion, while NAHR events involving sub-regions b' and c' can result in a 6.6-6.7 kb deletion. Deletion of GH1 results in isolated growth hormone deficiency (IGHD) type 1A, which is inherited in an autosomal recessive manner. Individuals with IGHD type 1A have proportionate short stature, can have neonatal hypoglycemia, immature facies for their chronological age, and may have high-pitched voices, poor development of the nasal bridge, and delayed secondary dentition. Patients with IGHD type 1A can respond well initially to growth hormone, but immune intolerance to growth hormone can develop. There have been reports that development of anti-growth hormone antibodies may be dependent on the specific GH1 deletions of the individual. [provided by RefSeq, Sep 2015]
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Genomic context

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Location:
17q24.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63919315..63923097)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64790074..64793857)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61996675..62000457)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene IGHD type 1A-1 recombination region Neighboring gene uncharacterized LOC112268204 Neighboring gene chorionic somatomammotropin hormone like 1 Neighboring gene growth hormone locus control region Neighboring gene growth hormone 1 Neighboring gene CD79b molecule Neighboring gene sodium voltage-gated channel alpha subunit 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62036321-62037320 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62037321-62038319 Neighboring gene uncharacterized LOC105371858

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. Isolated growth hormone deficiency. Hernández LM, et al. Pituitary, 2007. PMID 17965963
  2. Familial isolated growth hormone deficiency: genetics and pathophysiology. Hayashi Y, et al. Endocr J, 2002 Jun. PMID 12201208
  3. Human growth hormone gene deletion without antibody formation or growth arrest during treatment--a new disease entity? Laron Z, et al. Isr J Med Sci, 1985 Dec. PMID 3005192
  4. Molecular basis of human growth hormone gene deletions. Vnencak-Jones CL, et al. Proc Natl Acad Sci U S A, 1988 Aug. PMID 2840669, Free PMC Article
  5. Use of polymerase chain reaction in detection of growth hormone gene deletions. Vnencak-Jones CL, et al. J Clin Endocrinol Metab, 1990 Jun. PMID 2347891

See all (11) 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

  • isolated growth hormone deficiency type 1A-2 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_042204.1 

    Range
    101..3883
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    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    63919315..63923097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    64790074..64793857
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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