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SLC16A2 solute carrier family 16 member 2

Also known as: AHDS; MCT7; MCT8; XPCT; MCT 7; MCT 8; MRX22; DXS128; DXS128E

Summary

This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-28)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

ClinGen Genome Curation Page

Genomic context

Location:
Xq13.2
Sequence:
Chromosome: X; NC_000023.11 (74421493..74533929)
Total number of exons:
6

Links

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