ZNF365

Function

May play a role in uric acid excretion.

Involvement in disease

Uric acid nephrolithiasis

UAN

A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone-forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Tissue Specificity

Isoform 4 is expressed in placenta, lung, kidney and pancreas.

Alternative names

KIAA0844, ZNF365, Talanin

Database links

swissprot:Q70YC4 omim:607818 swissprot:Q70YC5 entrezGene:22891