SOX3

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 mental retardation with growth hormone deficiency. [provided by RefSeq]

Full Name

SOX3

Function

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).

Biological Process

Biological Process anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process central nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process face developmentISS:UniProtKB
Biological Process hypothalamus developmentISS:UniProtKB
Biological Process negative regulation of neuron differentiationISS:UniProtKB
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process pituitary gland developmentISS:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process sensory organ developmentISS:UniProtKB
Biological Process sex determinationManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Nucleus

Involvement in disease

Panhypopituitarism X-linked (PHPX):
Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary.
Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency (MRXGH):
A disorder characterized by the association of variable degrees of intellectual disability with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency.
46,XX sex reversal 3 (SRXX3):
A condition in which male gonads develop in a genetic female (female to male sex reversal).
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.