SOX3 gene

SRY-box transcription factor 3

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

From NCBI Gene:

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]

From UniProt:

Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mental retardation with panhypopituitarism, X-linked
  • Panhypopituitarism, X-linked

From UniProt:

46,XX sex reversal 3 (SRXX3): A condition in which male gonads develop in a genetic female (female to male sex reversal). [MIM:300833]

Mental retardation, X-linked, with isolated growth hormone deficiency (MRXGH): A disorder characterized by the association of variable degrees of mental retardation with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency. [MIM:300123]

Panhypopituitarism X-linked (PHPX): Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. [MIM:312000]

Hypoparathyroidism, X-linked (HYPX): An X-linked form of true hypoparathyroidism characterized by neonatal or infantile onset and absence of parathyroid glands. Clinical features are hypocalcemia, hyperphosphatemia, seizures, tetany and cramps. [MIM:307700]

Cytogenetic Location: Xq27.1, which is the long (q) arm of the X chromosome at position 27.1

Molecular Location: base pairs 140,502,985 to 140,505,069 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: Xq27.1, which is the long (q) arm of the X chromosome at position 27.1
  • GHDX
  • MRGH
  • PHP
  • PHPX
  • SOXB