H6pd - SNV Details



 Human Rare Diseases 
Hyperandrogenism due to cortisone reductase deficiency
Infantile regressive hypertriglyceridemia and hepatosteatosis

 Gene Information 
Gene Name H6pd
Old Gene Names for H6pd G6pd1 , Ai785303 , Gpd1
Gene Description hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) [Source:MGI Symbol;Acc:MGI:2140356]
MGI phenotype Mice homozygous for a knock-out allele show enlarged adrenal glands, reduced plasma corticosterone levels and altered 11 beta-hydroxysteroid dehydrogenase type 1 enzyme activity. Treatment with 11-dehydrocorticosterone fails to inhibit glucose-stimulated insulin secretion in pancreatic islets.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; glucose 1-dehydrogenase [NAD(P)] activity; NADP metabolic process; glucose-6-phosphate dehydrogenase activity; cytoplasm; 6-phosphogluconolactonase activity; pentose-phosphate shunt; intracellular membrane-bounded organelle; carbohydrate metabolic process; glucose metabolic process; NADP binding; endoplasmic reticulum lumen; carbohydrate binding; response to alcohol
Homolog in other species H6PD
Omim http://omim.org/entry/138090
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000028980
Chromosome 4
Coordinate 149,994,463     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 41
Allele Frequency
A:R0.37
T:V0.63
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL01913
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved