Template:Sex development genes table
From Embryology
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 | [Developmental_Signals_-_Homeobox|Transcription factor] | Blockage of testicular descent | Cryptorchidism | ||
Hoxa11 | [Developmental_Signals_-_Homeobox|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) | ||
|
a No mutations in human sexual disorders identified to date.
b Candidate gene for 9p deletion, XY sex reversal. | ||||
Table modified from <pubmed>17237341</pubmed> |