This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009].
The alignment you clicked on is first in the table below.
The RefSeq Genes track shows known human protein-coding and
non-protein-coding genes taken from the NCBI RNA reference sequences
collection (RefSeq). The data underlying this track are updated daily.
Display Conventions and Configuration
This track follows the display conventions for
gene prediction tracks.
The color shading indicates the level of review the RefSeq record has
undergone: predicted (light), provisional (medium), reviewed (dark).
The item labels and display colors of features within this track can be
configured through the controls at the top of the track description page.
This page is accessed via the small button to the left of the track's
graphical display or through the link on the track's control menu.
Label: By default, items are labeled by gene name. Click the
appropriate Label option to display the accession name instead of the gene
name, show both the gene and accession names, or turn off the label
Codon coloring: This track contains an optional codon coloring
feature that allows users to quickly validate and compare gene predictions.
To display codon colors, select the genomic codons option from the
Color track by codons pull-down menu. For more information about this
feature, go to the
Coloring Gene Predictions and Annotations by Codon page.
Hide non-coding genes: By default, both the protein-coding and
non-protein-coding genes are displayed. If you wish to see only the coding
genes, click this box.
RefSeq RNAs were aligned against the human genome using blat; those
with an alignment of less than 15% were discarded. When a single RNA
aligned in multiple places, the alignment having the highest base identity
was identified. Only alignments having a base identity level within 0.1% of
the best and at least 96% base identity with the genomic sequence were kept.
This track was produced at UCSC from RNA sequence data generated by scientists
worldwide and curated by the NCBI