AZF1

AZF1

protein
Name=azoospermia factor 1
caption=


width=
HGNCid=908
Symbol=AZF1
AltSymbols=AZF
EntrezGene=560
OMIM=
RefSeq=
UniProt=
PDB=
ECnumber=
Chromosome=Y
Arm=q
Band=11
LocusSupplementaryData=

AZF is an acronym for a region on the human male Y chromosome called the AZoospermia Factor.cite journal |author=Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates R, Page D, Rozen S |title=Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure |journal=Am J Hum Genet |volume=71 |issue=4 |pages=906–22 |year=2002 |pmid=12297986 |doi=10.1086/342928] Characterization of this gene has been important in understanding male infertility.cite journal |author=Ioulianos A, Sismani C, Fourouclas N, Patroclou T, Sergiou C, Patsalis P |title=A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design |journal=Int J Androl |volume=25 |issue=3 |pages=153–8 |year=2002 |pmid=12031043 |doi=10.1046/j.1365-2605.2002.00340.x] AZF1 is synonymous with AZFa, an older term. Possible alias terms include "AZFA" and "SP3". AZF is the term provided by the HUGO Gene Nomenclature Committee ( [http://www.gene.ucl.ac.uk/nomenclature/aboutHGNC.html] ).

AZF1

AZF1 ("Azoospermia Factor 1") gene is likely located in the euchromatic part of the long arm in Yq11.23. AZF1 is 792kb long and just distal to the centromere of the Y chromosome.cite journal |author=Vogt P |title=AZF deletions and Y chromosomal haplogroups: history and update based on sequence |journal=Hum Reprod Update |volume=11 |issue=4 |pages=319–36 |year=2005 |pmid=15890785 |doi=10.1093/humupd/dmi017]

AZF1 genes are likely involved in spermatogenesis in the testes. Mutations or deletions in the AZF genes may be a cause or contributing factor in male infertility.

AZF2

Originally, an AZFb and AZFc genes were identified and thought to be separate regions. They were later found to be overlapping and are now referred to as AZF2.

References


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