XIST Chromosome X

X inactive specific transcript
1 variant 1 Health Risk

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What This Gene Does
X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Long non-coding RNAs with non-systematic symbols
Locus Type
RNA, long non-coding
Location
Xq13.2
Ensembl
ENSG00000229807
Associated Conditions (3)
X inactivation
familial skewed
1
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS773396320 Health Risk Likely pathogenic X inactivation, familial skewed, 1
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