AMPD3 Break Apart FISH Probe

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
AMPD3BA-20-REGO 20 (40 μL) 200 μL color color Request Pricing
AMPD3BA-20-REGR 20 (40 μL) 200 μL color color Request Pricing
AMPD3BA-20-ORGR 20 (40 μL) 200 μL color color Request Pricing
AMPD3BA-20-GOGR 20 (40 μL) 200 μL color color Request Pricing
AMPD3BA-20-GRRE 20 (40 μL) 200 μL color color Request Pricing
AMPD3BA-20-GROR 20 (40 μL) 200 μL color color Request Pricing
AMPD3BA-20-GRGO 20 (40 μL) 200 μL color color Request Pricing
AMPD3BA-20-AQOR 20 (40 μL) 200 μL color color Request Pricing

Gene Summary

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

Gene Details

Gene Symbol : AMPD3

Gene Name : Adenosine monophosphate deaminase 3

Chromosome : CHR 11: 104,503,20-105,075,78

Locus : 11p15.4

Alt. Genes : KIF20A

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