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INHBP encodes a member of the immunoglobulin-like domain-containing superfamily. Additionally we are shipping Inhibin Binding Protein Antibodies (58) and Inhibin Binding Protein Kits (32) and many more products for this protein.
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This case suggests that more attention should be paid to intrauterine growth and birth history when patients are suspected of having an IGSF1 mutation
There is insufficient evidence to conclude that the three observed VUCSs in IGSF1 are associated with CDGP, making it unlikely that IGSF1 mutations are a prevalent cause of CDGP.
Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue.
Data suggest male subjects with IGSF1 deficiency syndrome exhibit X-linked congenital/central hypothyroidism, delayed puberty, macro-orchidism, hypoprolactinemia, metabolic syndrome, and transient partial growth hormone deficiency. [CASE REPORTS]
Our findings provide additional genetic evidence that loss-of-function mutations in IGSF1 cause an X-linked form of C-CH and variable prolactin (show PRL Proteins) deficiency.
Using exome and candidate gene sequencing, 8 distinct mutations and 2 deletions in IGSF1 were identified in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin (show PRL Proteins) concentrations.
IgSF1 is processed through sequential proteolysis by signal peptidase and signal peptide peptidase
This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.
immunoglobulin superfamily member 1
, immunoglobulin-like domain-containing protein 1
, inhibin-binding protein
, pituitary gland-specific factor 2
, betaglycan and inhibin binding protein
, inhibin binding protein