Aliases: MSA, TDH2A, TPX
Chromosome No: 2
Chromosome Band: 2p25.3
Genetic Category: Genetic association-Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 6
Evidence score: null
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Relevance to Autism
Family-based tests of association computed on the 22,904 single nucleotide polymorphisms (SNPs) from the 2,012 immune-related genes on 1,510 trios available at the Autism Genetic Resource Exchange (AGRE) repository revealed that several SNPs in immune-related genes remained statistically significantly associated with ASD after adjusting for multiple comparisons. Specifically, a significant association in the thyroid peroxidase gene (TPO) (rs1514687, P = 5.72 x 10-06, OR = 1.46 (1.24- 1.72)) was observed (Ramos et al., 2012).
Molecular Function
This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine.
External Links
