Duplication of bones involving the upper extremities

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Results for "Duplication of bones involving the upper extremities": 18 genes

Name
UCMA Gene upper zone of growth plate and cartilage matrix associated This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]
DUP5P13 Gene Chromosome 5p13 duplication* syndrome*
CXDUPQ26.3 Gene Chromosome Xq26.3 duplication* syndrome*
OPHLC Gene Omphalocele due to duplication* of 1p31.3*
DUP16P11.2 Gene Chromosome 16p11.2 duplication* syndrome*
DUP17Q23.1Q23.2 Gene Chromosome 17q23.1-q23.2 duplication* syndrome*
DUP2Q31.1 Gene Chromosome 2q31.1 duplication* syndrome*
DUP16P13.3 Gene Chromosome 16p13.3 duplication* syndrome*
DUPXQ28 Gene Chromosome Xq28 duplication* syndrome*
DUP7Q11.23 Gene Chromosome 7q11.23 duplication* syndrome*
DUPXQ27.3Q28 Gene Chromosome Xq27.3-q28 duplication* syndrome*
DUP17P13.3 Gene Chromosome 17p13.3 duplication* syndrome*
DUP17Q12 Gene Chromosome 17q12 duplication* syndrome*
DUPXP11.23P11.22 Gene Chromosome Xp11.23-p11.22 duplication* syndrome*
DUP1Q21 Gene Chromosome 1q21.1 duplication* syndrome*
DUP17Q21.31 Gene Chromosome 17q21.31 duplication* syndrome*
DUP8Q22.1 Gene Leri pleonosteosis chromosome duplication* syndrome*
DUP22Q13 Gene Chromosome 22q13 duplication* syndrome*