ACTRT1 Chromosome X
Actin related protein T1
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What This Gene Does
This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Actin related proteins
Locus Type
gene with protein product
Location
Xq25
Ensembl
ENSG00000123165
Associated Conditions (2)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
ACTRT1-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS771087307 | Health Risk | Conflicting classifications of pathogenicity | Male infertility with azoospermia or oligozoospermia due to single gene mutation, ACTRT1-related disorder, Male infertility with azoospermia or oligozoospermia due to single gene mutation |