COL10A1

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). [provided by RefSeq, Jul 2008]

Description

Collagen type X alpha 1 chain

Tissue specificity

Group enriched (brain, choroid plexus, gallbladder)

Subcell location

Endoplasmic reticulum

Predicted location

Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6:q22.1 (116118909 - 116158747)

Ensembl ID

ENSG00000123500  (ver. 103.38)

Orthologs

-

UniProt

Q03692

neXtProt

NX_Q03692

Human splice variants