Anti-Mullerian Hormone Type II Receptor

Alternative Names

  • AMHR2
  • Anti-Mullerian Hormone Receptor
  • AMHR
  • Mullerian Inhibiting Substance Type II Receptor
  • MISR2
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OMIM Number

600956

NCBI Gene ID

269

Uniprot ID

Q16671

Length

7,818 bases

No. of Exons

13

No. of isoforms

3

Protein Name

Anti-Muellerian Hormone Type-2 Receptor

Molecular Mass

62750 Da

Amino Acid Count

573

Genomic Location

chr12:53,423,854-53,431,671

Gene Map Locus
12q13.13

Description

The AMHR2 gene encodes the anti-Müllerian hormone (AMH) receptor type 2 that is involved in male sex differentiation.  The AMH receptor type 2 is found on the surface of Müllerian duct cells.  These cells are found in both male and female fetuses, and they are the precursor to the female reproductive organs.  AMHR2 is an essential factor for the regression of the Müllerian duct in males.  During development of male fetuses, AMH and testosterone are produced in the testes by different cells and have different effects.  Testosterone promotes the development of male genitalia while the AMH protein binds to the AMH receptor type 2, which signals apoptosis of the Müllerian duct cells.  As a result, the Müllerian duct regresses in males.  Defects in the AMH receptor type 2 lead to the persistent Müllerian duct syndrome, a rare form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression and becomes a uterus and fallopian tubes in otherwise normal males.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020547.3:c.1219C>TSaudi Arabiachr12:53429909PathogenicPersistent Mullerian Duct Syndrome, Types I and IING_015981.1:g.11055C>T; NM_020547.3:c.1219C>T; NP_065434.1:p.Arg407Ter761052310
NM_020547.3:c.762C>GJordan; Saudi Arabiachr12:53425829PathogenicPathogenicPersistent Mullerian Duct Syndrome, Types I and IING_015981.1:g.6975C>G; NM_020547.3:c.762C>G; NP_065434.1:p.His254Gln115267458734341
NM_020547.3:c.994C>TSaudi Arabiachr12:53429479PathogenicPathogenicPersistent Mullerian Duct Syndrome, Types I and IING_015981.1:g.10625C>T; NM_020547.3:c.994C>T; NP_065434.1:p.Arg332Ter781745214689555

Other Reports

Jordan

See: [Saudi Arabia> Abduljabbar et al. (2012)]

Saudi Arabia

Abduljabbar et al. (2012) described two extended Saudi and Jordanian families affected with persistent Müllerian duct syndrome due to mutations in the AMH receptor type II.  The parents of the Saudi family were first cousins.  They had 6 sons and 2 daughters; 4 of the boys and one girl were homozygous for a stop codon mutation (c.6053C>T) in exon 9.  The proband presented with bilateral undescended testes at birth and developed left inguinal hernia at the age of 1 year.  Four months later, he underwent orchiopexy and hernia repair.  Both testes with a uterus, cervix, and fallopian tubes could be pulled into the left scrotum through a left inguinal incision.  His three older brothers had undergone prior surgery.  His remaining two brothers and both sisters were clinically normal.  The parents of the Jordanian family were not related; they had 4 girls and 2 boys.  One boy and one girl were homozygous for a transversion mutation (c.1973 C>G) in exon 6.  The proband was a 2 day-old boy presented with impalpable testes.  At the age of 9 months, laparoscopy showed a left inguinal hernia containing both testes with a uterus and cervix.  They were returned to the abdominal cavity and the uterus was dissected and removed, then the testes were fixed intro the scrotum.  His 4 sisters and brother were clinically normal.

 

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