IGSF1
Developmental stage
Expressed in embryo Carnegie stage 18 in Rathke's pouch progenitors.
Function
Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription.
Involvement in disease
Hypothyroidism, central, and testicular enlargement
CHTE
A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Highly expressed in pancreas, testis and fetal liver. Moderately expressed in heart, prostate and small intestine. Expressed at very low levels in brain, thymus, ovary, colon, fetal lung and fetal kidney. Expressed in muscle. Isoform 3 is expressed in pituitary gland.
Cellular localization
- Isoform 1
- Membrane
- Multi-pass membrane protein
- Isoform 2
- Membrane
- Multi-pass membrane protein
- Isoform 3
- Secreted
Alternative names
IGDC1, KIAA0364, PGSF2, IGSF1, Immunoglobulin superfamily member 1, IgSF1, Immunoglobulin-like domain-containing protein 1, Inhibin-binding protein, Pituitary gland-specific factor 2, p120, InhBP