TRIP13

Highest pathogenic variant AF is 0.00001094574

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000166345

Coding exons

13

Length

26715

Individuals with no LoFs

125742

Homozygous LoFs

0

Heterozygous LoFs

6

Defined

125748

p

0.0000239

Function

FUNCTION: Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double- strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Plays a role in mitotic spindle assembly checkpoint (SAC) activation (PubMed:28553959). {ECO:0000250|UniProtKB:Q3UA06, ECO:0000269|PubMed:28553959}.;

Disease

DISEASE: Mosaic variegated aneuploidy syndrome 3 (MVA3) [MIM:617598]: A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA3 inheritance is autosomal recessive. {ECO:0000269|PubMed:28553959}. Note=The disease is caused by mutations affecting the gene represented in this entry. MVA3 is caused by biallelic mutations in the TRIP13 gene.;