AMMECR1 Summary

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

AMMECR1 Details

Gene Symbol : AMMECR1

Gene Name : Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

Chromosome : CHR X: 110,440,232-110,194,185

Locus : Xq23

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PLA2G12B Summary

The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

PLA2G12B Details

Gene Symbol : PLA2G12B

Gene Name : Phospholipase A2 group XIIB

Chromosome : CHR 10: 729,550,43-729,347,61

Locus : 10q22.1

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