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BOLL boule homolog, RNA binding protein

Gene ID: 66037, updated on 10-Oct-2024
Gene type: protein coding
Also known as: BOULE

Summary

This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
GeneReviews: Not available

Genomic context

Location:
2q33.1
Sequence:
Chromosome: 2; NC_000002.12 (197726890..197786206, complement)
Total number of exons:
15

Links

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