Template:Sex development genes table

Mammalian Sexual Development Genes
Gene (OMIM)	Protein Function	Gonad Phenotype of Null Mice	Human Syndrome
Bipotential gonad
Wt1	Transcription factor	Blockage in genital ridge development	Denys-Drash, WAGR, Frasier syndrome
Sf1	Nuclear receptor	Blockage in genital ridge development	Embryonic testicular regression syndrome
Lhx9	Transcription factor	Blockage in genital ridge development	a
Emx2	Transcription factor	Blockage in genital ridge development	a
M33	Transcription factor	Gonadal dysgenesis	a
Testis-determining pathway
Gata4/Fog2	Transcription/cofactor	Reduced Sry levels, XY sex reversal	a
Sry	Transcription factor	XY sex reversal	XY sex reversal (LOF); XX sex reversal (GOF)
Sox9	Transcription factor	XY sex reversal	Campomelic dysplasia, XX sex reversal (GOF)
Sox8	Transcription factor	XY sex reversal in combination with partial loss of Sox9 function	a
Fgf9	Signaling molecule	XY sex reversal	a
Dax1	Nuclear receptor	Impaired testis cord formation and spermatogenesis	Hypogonadism
Pod1	Transcription factor	XY sex reversal	a
Dhh	Signaling molecule	Impaired differentiation of Leydig and PM cells	XY gonadal dysgenesis
Pgdra	Receptor	Reduction in mesonephric cell migration	a
Pgds	Enzyme	No phenotype	a
Arx	Transcription factor	Abnormal testicular differentiation	X-linked lissencephaly with abnormal genitalia
Atrx	Helicase	ND	ATRX syndrome
Insl3	Signaling factor	Blockage of testicular descent	Cryptorchidism
Lgr8	Receptor	Blockage of testicular descent	Cryptorchidism
Hoxa10	Transcription factor	Blockage of testicular descent	Cryptorchidism
Hoxa11	Transcription factor	Blockage of testicular descent	Cryptorchidism
Amh	Hormone	No Müllerian duct degeneration	Persistent Müllerian duct syndrome
Misrl1	Receptor	No Müllerian duct degeneration	Persistent Müllerian duct syndrome
Pax2	Transcription factor	Dysgenesis of mesonephric tubules	a
Lim1	Transcription factor	Agenesis of Wolffian and Müllerian ducts	a
Dmrt1	Transcription factor	Loss of Sertoli and germ cells	XY femaleb
Ovary-determining pathway
Wnt4	Signaling molecule	Müllerian duct agenesis, testosterone synthesis, and coelomic vessel formation	XY female (GOF)
FoxL2	Transcription factor	Premature ovarian failure	BPES
Dax1	Nuclear receptor	XY sex reversal (GOF)	XY sex reversal (GOF)
RSPO1	Signaling molecule	XX sex reversal (LOF)	XX sex reversal (LOF)
Table Legend
	BPES - blepharophimosis-ptosis-epicanthus inversus syndrome GOF - gain-of-function mutation LOF - loss-of-function mutation ND - not determined WAGR - Wilms' tumor-aniridia-genitourinary malformations-mental retardation		a No mutations in human sexual disorders identified to date. b Candidate gene for 9p deletion, XY sex reversal.
Table modified from Wilhelm D, Palmer S & Koopman P. (2007). Sex determination and gonadal development in mammals. Physiol. Rev. , 87, 1-28. PMID: 17237341 DOI.