BOLL

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]

Description

boule homolog, RNA binding protein

Protein family

Mapped to UniProt SWISS-PROT, Predicted intracellular proteins

Chromosome

2:q33.1 (197726879 - 197786762)

Ensembl ID

ENSG00000152430  (ver. 84.38)

Orthologs

Mouse Boll: ENSMUSG00000025977

UniProt

Q8N9W6

neXtProt

NX_Q8N9W6

Human splice variants
Mouse splice variants