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This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenit

Cysteine protease required for autophagy, which cleaves the C-terminal part of either MAP1LC3, GABARAPL2 or GABARAP, allowing the liberation of form I. A subpopulation of form I is subsequently converted to a smaller form (form II). Form II, with a revealed C-terminal glycine, is considered to be the phosphatidylethanolamine (PE)-conjugated form, and has the capacity for the binding to autophagosomes.

This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].

Mitochondria are the center of cellular energy production and essential metabolic reactions. As double membrane-bound organelles, mitochondria from different species, tissues, and metabolic states are highly polymorphic in nature, yet exhibit common structural features. The ultrastructural variations in mitochondrial architecture occur mainly due to the differences in the amount and shape of cristae. Abundant cristae are found in mitochondria from tissues where energy demand is high. Analysi

ILKAP belongs to the PP2C family and contains one PP2C-like domain. ILKAP has been suggested to inhibit oncogenic transformation and the ILK-GSK3beta signaling axis, and can bind two magnesium or manganese ions per subunit as cofactors. The gene encoding ILKAP maps to human chromosome 2, which consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome.

This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]