GH1 Chromosome 17
Growth hormone 1
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What This Gene Does
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]
Gene Info
Gene Group
Growth hormone family
Locus Type
gene with protein product
Location
17q23.3
Ensembl
ENSG00000259384
Associated Conditions (8)
Decreased response to growth hormone stimulation test
GH1-related disorder
Inborn genetic diseases
Autosomal dominant isolated somatotropin deficiency
Ateleiotic dwarfism
Short stature due to growth hormone qualitative anomaly
Isolated growth hormone deficiency type IB
Idiopathic growth hormone deficiency
Key Variants
RS111957225
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, GH1-related disorder, Decreased response to growth hormone stimulation test
Health Risk
RS137882374
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
Health Risk
RS140576665
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, Inborn genetic diseases, Decreased response to growth hormone stimulation test
Health Risk
RS142704768
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
Health Risk
RS191202934
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
Health Risk
RS2001345
Conflicting classifications of pathogenicity
Health Risk
RS201849388
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
Health Risk
RS370785603
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
Health Risk
RS372110326
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS4080078
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
Health Risk
RS5388
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
Health Risk
RS61735359
Conflicting classifications of pathogenicity
Decreased response to growth hormone stimulation test, GH1-related disorder, Decreased response to growth hormone stimulation test
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111957225 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, GH1-related disorder, Decreased response to growth hormone stimulation test |
| RS137882374 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS140576665 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, Inborn genetic diseases, Decreased response to growth hormone stimulation test |
| RS142704768 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS191202934 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS2001345 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201849388 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS370785603 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS372110326 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS4080078 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS5388 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS61735359 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, GH1-related disorder, Decreased response to growth hormone stimulation test |
| RS61762498 | Health Risk | Conflicting classifications of pathogenicity | Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test |
| RS1567803095 | Health Risk | Likely pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS1907478805 | Health Risk | Likely pathogenic | Ateleiotic dwarfism, Ateleiotic dwarfism |
| RS2509250234 | Health Risk | Likely pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS754126557 | Health Risk | Likely pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS137853219 | Health Risk | Pathogenic | Ateleiotic dwarfism, Ateleiotic dwarfism |
| RS137853220 | Health Risk | Pathogenic | Short stature due to growth hormone qualitative anomaly, Short stature due to growth hormone qualitative anomaly |
| RS137853221 | Health Risk | Pathogenic | Short stature due to growth hormone qualitative anomaly, Short stature due to growth hormone qualitative anomaly |
| RS137853222 | Health Risk | Pathogenic | Short stature due to growth hormone qualitative anomaly, Short stature due to growth hormone qualitative anomaly |
| RS137853223 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS1907472729 | Health Risk | Pathogenic | Ateleiotic dwarfism, Ateleiotic dwarfism |
| RS2144738731 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS2144739370 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS2144739380 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS2509250570 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS2509253023 | Health Risk | Pathogenic | Ateleiotic dwarfism, Ateleiotic dwarfism |
| RS71640277 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Short stature due to growth hormone qualitative anomaly, Isolated growth hormone deficiency type IB |
| RS797044449 | Health Risk | Pathogenic | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS797044450 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS863223306 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS863223307 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Idiopathic growth hormone deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS863223308 | Health Risk | Pathogenic | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS863223309 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS863223310 | Health Risk | Pathogenic | Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency |
| RS2144739391 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant isolated somatotropin deficiency, GH1-related disorder, Autosomal dominant isolated somatotropin deficiency |
| RS2509251319 | Health Risk | Pathogenic/Likely pathogenic | Idiopathic growth hormone deficiency, Idiopathic growth hormone deficiency |