GH1

Chr 17q23.3

growth hormone 1

Aliases:: hGH, GH-N, GHN, GH, hGH-N
MANE:: ENST00000323322.10

OMIM: 139250 ↗NCBI: 2688 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GH1 · P01241

v62025-08-01

Predicted Aligned Error matrix for GH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.3/ 100

Confident

217 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)34%
Low(50–70)14%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

IUGR and IGF abnormalities
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic short stature
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteogenesis imperfecta

Disease associations (Open Targets)

Non-acquired isolated growth hormone deficiency
0.81
isolated growth hormone deficiency type II
0.75
isolated growth hormone deficiency type IB
0.74
short stature due to growth hormone qualitative anomaly
0.69
isolated growth hormone deficiency type IA
0.60
hereditary disease
0.42
neurodegenerative disease
0.34
Decreased response to growth hormone stimulation test
0.19
acromegaly
0.13
Prader-Willi syndrome
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Somatotropin

Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues