|
|
Table 2.
Three structurally related human genes with an anion transport function
and mutations in distinct diseases
|
|
| Gene |
Chromosomal Location |
Structural Information
|
Site of Expression |
Transported Anions |
Disease
Caused by Mutations |
Number of Known Mutations |
|
| CLD
(DRA) |
7q22-q31.1 |
21 exons, 764 aa |
Differentiated cells in ileal and colonic mucosa, prostate |
Sulfate,
oxalate, chloride, others? |
CLD |
20 |
| PDS |
7q22-q31.1
|
21 exons, 780 aa |
Thyroid, other? |
Not known |
Pendred
syndrome |
15 |
| DTDST |
5q32-q33.1 |
4 exons, 739 aa |
Many
tissues, more in cartilage and ileum |
Sulfate, chloride, others?
|
Diastrophic dysplasia, congenital achondrogenesis type IB,
atelosteogenesis type II |
14 |
|
|
aa, Amino acids; DRA, downregulated in adenoma gene;
PDS, putative sulfate transporter gene; DTDST,
diastrophic dysplasia gene.
|
|