GH1

Function

Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.

Involvement in disease

Growth hormone deficiency, isolated, 1A

IGHD1A

An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone.

None

The disease is caused by variants affecting the gene represented in this entry.

Growth hormone deficiency, isolated, 1B

IGHD1B

An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy.

None

The disease is caused by variants affecting the gene represented in this entry.

Kowarski syndrome

KWKS

A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy.

None

The disease is caused by variants affecting the gene represented in this entry.

Growth hormone deficiency, isolated, 2

IGHD2

An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the somatotropin/prolactin family.

Cellular localization

• Secreted

Alternative names

• Somatotropin
• Growth hormone
• Growth hormone 1
• Pituitary growth hormone
• GH
• GH-N
• GH1

Database links

• entrezGene:2688
• omim:139250
• swissprot:P01241

Target type

Proteins

Molecular weight

24847Da