C219096Level 5
IGSF1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human IGSF1 wild-type allele is located in the vicinity of Xq26.1 and is approximately 305 kb in length. This allele, which encodes immunoglobulin superfamily member 1 protein, is involved in the modulation of inhibin signaling. Mutations in the gene are associated with central hypothyroidism with or without testicular enlargement (IGSF1 deficiency syndrome).
**Synonyms:** - CHTE - IGCD1 - IGDC1 - INHBP - Immunoglobulin Superfamily Member 1 wt Allele - Immunoglobulin Superfamily, Member 1 Gene - KIAA0364 - MGC75490 - PGSF2 - p120
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Cross-system equivalences0
No cross-system equivalences mapped for this node.