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FLASH GENE

Symbol

SPACA1

contributors: mct - updated : 30-08-2022

HGNC name	sperm acrosome associated 1
HGNC id	14967

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SPGF74

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in patients with globozoospermia constitutional       loss of function disruption of SPACA1 led to the disappearance of the nuclear plate, a dense lining of the nuclear envelope facing the inner acrosomal membrane

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Spaca1 gene-disrupted mice have abnormally shaped sperm heads that resemble those of human globozoospermia