IGSF1 gene

immunoglobulin superfamily member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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.[provided by RefSeq, Jan 2010]

From UniProt:

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.

From NCBI Gene:

  • Hypothyroidism, central, and testicular enlargement

From UniProt:

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. [MIM:300888]

Cytogenetic Location: Xq26.1, which is the long (q) arm of the X chromosome at position 26.1

Molecular Location: base pairs 131,273,506 to 131,289,457 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq26.1, which is the long (q) arm of the X chromosome at position 26.1
  • CHTE
  • IGCD1
  • IGDC1
  • INHBP
  • p120
  • PGSF2