ALG9 Summary

This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

ALG9 Details

Gene Symbol : ALG9

Gene Name : ALG9, alpha-1,2-mannosyltransferase

Chromosome : CHR 11: 111,871,580-111,776,095

Locus : 11q23.1

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PDGFD Summary

The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]

PDGFD Details

Gene Symbol : PDGFD

Gene Name : Platelet derived growth factor D

Chromosome : CHR 11: 104,164,298-103,907,185

Locus : 11q22.3

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