This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer.

Prostatic Acid Phosphatase is Belongs to the histidine acid phosphatase family.Cellular localization;Secreted and Lysosome membrane. Predominantly localized in the plasma membrane but also detected in intracellular vesicles.

This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This

PMSA (FOLH1) is a type II transmembrane glycoprotein belonging to the M28 peptidase family. Three functionally distinct proteins are encoded, including folylpoly-gamma-glutamate carboxypeptidase in the intestine, N-acetylated alpha-linked acidic dipeptidase 1 in the brain, and prostate-specific membrane antigen in the prostate. A mutation in the intestinal form may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperho

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008].

ENPP1 has a broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. It can hydrolyze nucleoside 5' triphosphates such as ATP, GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate. It can also hydrolyze diadenosine polyphosphates and 3',5'-cAMP to AMP. It may play a role in the regulation of pyrophosphate production, the re