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Gene | OMIM | Description |
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USP15 | 604731 | USP15 is required for TGFB and BMP responses in both mammalian cells and frog embryos. The USP15 gene encodes for a deubiquitinating enzyme. Animal models have shown that it regulates bone morphogenetic signalling during embryogenesis [10]. |
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PPM1H | 616016 | Knockdown of PPM1H significantly increases proliferation in BT474 breast cancer cells [11]. |
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AVPR1A | 600821 | The AVPR1A gene encodes for a receptor that is involved in vasopressin signalling, which is involved in behavioural responses, including stress management and territorial aggression as well as social bonding and recognition [12]. |
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DPY19L2 | 613893 | DPY19L2 represents the major gene causing globozoospermia [13]. |
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TMEM5 | 605862 | The TMEM5 gene encodes for a type II membrane protein of unknown function, but mutations have been associated with gonadal dysgenesis, neural tube defects, and most recently being a cause of severe cobblestone lissencephaly [14]. |
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SRGAP1 | 606523 | SRGAP1 interacts with Roundabout transmembrane receptors, together with SLIT proteins, which guide neuronal and leukocyte migration [15]. |
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XPOT | 603180 | Exportin-t is a specific mediator of tRNA export [16, 17]. |
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TBK1 | 604834 | TBK1 is a binding partner for optineurin [18]. |
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RASSF3 | 607019 | The RASSF3 gene encodes for a putative tumor suppressor [19]. |
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GNS | 607664 | The GNS gene encodes for N-acetylglucosamine-6-sulfatase, which is required for degradation of heparin sulphate. Homozygous mutations in this gene have been shown to be the cause of mucopolysaccharidosis type IIID [20]. |
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TBC1D30 | 615077 | TBC1D30 protein is predicted to be involved in cell signalling [21]. |
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WIF1 | 605186 | WIF1 binds to WNT proteins and inhibits their extracellular signaling involved in the control of embryonic development [22]. |
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LEMD3 | 607844 | LEMD3 is involved in both BMP and TGF-beta signalling. Heterozygous loss-of-function mutations in the LEMD3 gene are implicated in Osteopoikilosis and the associated Buschke-Ollendorff syndrome [8]. |
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MRSB3 | 613719 | The MSRB3 gene encodes for methioinine sulfoxide reductase. Homozygous mutations in this gene are associated with a form of autosomal recessive, nonsyndromic deafness [23]. |
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