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GH1 growth hormone 1

Also known as: GH; GHN; GH-N; GHB5; hGH-N; IGHD1B

Summary

The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Ateleiotic dwarfism
MedGen: C0342573OMIM: 262400GeneReviews: Not available
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Autosomal dominant isolated somatotropin deficiency
MedGen: C0271567OMIM: 173100GeneReviews: Not available
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Isolated growth hormone deficiency type 1B
MedGen: C2748571OMIM: 612781GeneReviews: Not available
See labs
Kowarski syndrome
MedGen: C1849779OMIM: 262650GeneReviews: Not available
See labs

Genomic context

Location:
17q23.3
Sequence:
Chromosome: 17; NC_000017.11 (63917193..63918852, complement)
Total number of exons:
5

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