immunoglobulin superfamily member 1
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Diagnostic Grade (Green)
Congenital hypothyroidism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesPituitary hormone deficiency
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesX-linked central congenital hypothyroidism with late-onset testicular enlargement
neurodegenerative disease
hereditary disease
post-traumatic stress disorder
Macroorchidism
Central hypothyroidism
hypopituitarism
cancer
neoplasm
Combined pituitary hormone deficiencies, genetic forms
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Immunoglobulin superfamily member 1
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
IGSF1 · Q8N6C5
Mean pLDDT
73.2/ 100
Confident
1,336 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
