AMMEC

AMMEC2017-01-02T01:54:06+00:00

AMMEC

GENETICS

Definition AMMEC is genetic locus on chromosome Xq22.3 which is thought to bear the gene that causes AMME complex (Alport syndrome—mental retardation—midface hypoplasia—and elliptocytosis, OMIM: 300194), a contiguous gene syndrome. 

Molecular pathology The contiguous genes affected in AMME complex include 

• COL4A5—which encodes collagen—type 4—alpha 5

• FACL4—which encodes a long-chain acyl-CoA synthetase, and

• AMMECR1—which encodes a protein of unknown function. 

Synonym cXdelq22.3, delXq22.3, Alport syndrome, Mental retardation, Midface hypoplasia, and Elliptocytosis,

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMMEC

http://omim.org/entry/300194

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