Gene: NT5DC1

Alternate names for this Gene: C6orf200|LP2642|NT5C2L1

Gene Summary: While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.1

Description of this Gene: 5'-nucleotidase domain containing 1

Type of Gene: protein-coding

Gene: COL10A1

Alternate names for this Gene: -

Gene Summary: This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD).

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.1

Description of this Gene: collagen type X alpha 1 chain

Type of Gene: protein-coding

rs3812111 in NT5DC1;COL10A1 gene and Age related macular degeneration PMID 23455636 2013 Seven new loci associated with age-related macular degeneration.

rs111033544 in NT5DC1;COL10A1 gene and Metaphyseal chondrodysplasia Schmid type PMID 7607655 1995 Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.

PMID 9852679 1998 Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

PMID 7876225 1995 Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia.

PMID 8304336 1994 Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

PMID 15880705 2005 Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

PMID 8782043 1996 Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

PMID 8004099 1994 Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.

PMID 9067753 1997 Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

rs1064583 in NT5DC1;COL10A1 gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.