MAMDC2 is a 686 amino acid secreted protein that localizes to extracellular matrix. Containing four MAM domains and existing as two alternatively spliced isoforms, MAMDC2 is encoded by a gene located on human chromosome 9q21.11. Chromosome 9 consists of about 145 million bases, 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, Familial dysautonomia and certain leukemias are also associated with chromosome 9.
Subcellular Location:
Secreted > extracellular space > extracellular matrix.
Post-translational modifications:
O-glycosylated.
Similarity:
Contains 4 MAM domains.
SWISS:
Q7Z304
Gene ID:
256691
Database links:
Entrez Gene: 256691 Human
Omim: 612879 Human
SwissProt: Q7Z304 Human
Unigene: 547172 Human
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