CLMP Chromosome 11
CXADR like cell adhesion molecule
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What This Gene Does
This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"V-set domain containing|I-set domain containing|IgCAM CXADR-related subfamily"
Locus Type
gene with protein product
Location
11q24.1
Ensembl
ENSG00000166250
Associated Conditions (3)
Congenital short bowel syndrome
autosomal recessive
Intestinal pseudo-obstruction
Key Variants
RS1394600425
Likely pathogenic
Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome
Health Risk
RS749804569
Likely pathogenic
Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome
Health Risk
RS2135468678
Pathogenic
Health Risk
RS587776964
Pathogenic
Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome
Health Risk
RS587776965
Pathogenic
Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome
Health Risk
RS587776966
Pathogenic
Intestinal pseudo-obstruction, Congenital short bowel syndrome, autosomal recessive
Health Risk
RS587776967
Pathogenic
Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome
Health Risk
RS765907815
Pathogenic/Likely pathogenic
Intestinal pseudo-obstruction, Congenital short bowel syndrome, autosomal recessive
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1394600425 | Health Risk | Likely pathogenic | Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome |
| RS749804569 | Health Risk | Likely pathogenic | Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome |
| RS2135468678 | Health Risk | Pathogenic | — |
| RS587776964 | Health Risk | Pathogenic | Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome |
| RS587776965 | Health Risk | Pathogenic | Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome |
| RS587776966 | Health Risk | Pathogenic | Intestinal pseudo-obstruction, Congenital short bowel syndrome, autosomal recessive |
| RS587776967 | Health Risk | Pathogenic | Congenital short bowel syndrome, autosomal recessive, Congenital short bowel syndrome |
| RS765907815 | Health Risk | Pathogenic/Likely pathogenic | Intestinal pseudo-obstruction, Congenital short bowel syndrome, autosomal recessive |