The extant immunoglobulin superfamily, member 1 gene results from an ancestral gene duplication in eutherian mammals.
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ABSTRACT:
SUBMITTER: Smith CL
PROVIDER: S-EPMC9162367 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Publications
The extant immunoglobulin superfamily, member 1 gene results from an ancestral gene duplication in eutherian mammals.
Smith Courtney L CL Harrison Paul M PM Bernard Daniel J DJ
PloS one 20220602 6
Immunoglobulin superfamily, member 1 (IGSF1) is a transmembrane glycoprotein with high expression in the mammalian pituitary gland. Mutations in the IGSF1 gene cause congenital central hypothyroidism in humans. The IGSF1 protein is co-translationally cleaved into N- and C-terminal domains (NTD and CTD), the latter of which is trafficked to the plasma membrane and appears to be the functional portion of the molecule. Though the IGSF1-NTD is retained in the endoplasmic reticulum and has no apparen ...[more]
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