| MIGA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MIGA2 , C9orf54, FAM73B, family with sequence similarity 73 member B, mitoguardin 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 616774 MGI: 1922035 HomoloGene: 13125 GeneCards: MIGA2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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The family with sequence similarity 73, member B, also known as FAM73B, is a human gene. [5]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Homozygous Fertility | Normal |
| Body weight | Abnormal [6] |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Abnormal [7] |
| Radiography | Abnormal [8] |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Abnormal [9] |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Brain histopathology | Normal |
| MicroCT & Quantitative Faxitron | Abnormal |
| Salmonella infection | Normal [10] |
| Citrobacter infection | Abnormal [11] |
| All tests and analysis from [12] [13] |
Model organisms have been used in the study of FAM73B function. A conditional knockout mouse line, called Fam73btm1a(KOMP)Wtsi [14] [15] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. [16] [17] [18]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [12] [19] Twenty four tests were carried out on mutant mice and six significant abnormalities were observed. Homozygous mutant animals had a decreased body weight, altered body composition, abnormal tooth morphology, hypoalbuminemia, decreased bone mineral content and strength, and an increased susceptibility to bacterial infection. [12]
Sorting nexin-5 is a protein that in humans is encoded by the SNX5 gene.
Kaptin is a protein that in humans is encoded by the KPTN gene.
Cytochrome b561 is a protein that in humans is encoded by the CYB561 gene.
Inositol polyphosphate 1-phosphatase is an enzyme that, in humans, is encoded by the INPP1 gene. INPP1 encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate.
DEAD (Asp-Glu-Ala-Asp) box polypeptide 27, also known as DDX27, is a human gene.
TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene.
Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.
N-terminal EF-hand calcium-binding protein 2 is a protein that in humans is encoded by the NECAB2 gene.
SLC35F6 is a protein that in humans is encoded by the SLC35F6 gene. The orthologue in mice is 4930471M23Rik.
Pseudouridylate synthase 7 homolog-like protein is an enzyme that in humans is encoded by the PUS7L gene.
RING finger protein 10 is a protein that in humans is encoded by the RNF10 gene.
SET and MYND domain-containing protein 4 is a protein that in humans is encoded by the SMYD4 gene.
Deoxyribonuclease-1-like 2 is an enzyme that in humans is encoded by the DNASE1L2 gene.
Ninein-like protein is a protein that in humans is encoded by the NINL gene. It is part of the centrosome.
DCC-interacting protein 13-beta is a protein that in humans is encoded by the APPL2 gene.
Twinfilin-1 is a protein that in humans is encoded by the TWF1 gene. This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1.
Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.
Coiled-coil domain-containing protein 57 is a protein that in humans is encoded by the CCDC57 gene.
caprin family member 2, also known as CAPRIN2, is a human gene.
Clusterin associated protein 1, also known as CLUAP1, is a human gene.
