AMPD3 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]

AMPD3 Details

Gene Symbol : AMPD3

Gene Name : Adenosine monophosphate deaminase 3

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

Locus : 11p15.4

---

ANKH Summary

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]

ANKH Details

Gene Symbol : ANKH

Gene Name : ANKH inorganic pyrophosphate transport regulator

Chromosome : CHR 5: 148,717,77-147,047,99

Locus : 5p15.2

---

Request Pricing

Lorem Ipsum is simply dummy text of the printing and typesetting industry.

Lorem Ipsum is simply dummy text of the printing and typesetting industry.