ZFX Chromosome X
Zinc finger protein X-linked
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What This Gene Does
This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]
Gene Info
Gene Group
"Zinc fingers C2H2-type|ZFX transcription factor family"
Locus Type
gene with protein product
Location
Xp22.11
Ensembl
ENSG00000005889
Associated Conditions (3)
Intellectual developmental disorder
X-linked
syndromic 37
Key Variants
RS2519220921
Pathogenic
Intellectual developmental disorder, X-linked, syndromic 37
Health Risk
RS2519876529
Pathogenic
Intellectual developmental disorder, X-linked, syndromic 37
Health Risk
RS2519900420
Pathogenic
Intellectual developmental disorder, X-linked, syndromic 37
Health Risk
RS2519900660
Pathogenic
Intellectual developmental disorder, X-linked, syndromic 37
Health Risk
RS748417793
Pathogenic
Intellectual developmental disorder, X-linked, syndromic 37
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2519220921 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic 37 |
| RS2519876529 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic 37 |
| RS2519900420 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic 37 |
| RS2519900660 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic 37 |
| RS748417793 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic 37 |