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FLASH GENE

Symbol

SOHLH1

contributors: mct - updated : 24-03-2021

HGNC name	spermatogenesis and oogenesis specific basic helix-loop-helix
HGNC id	27845

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ODG5 , SPGF32

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function causes infertility by disrupting spermatogonial differentiation into spermatocytes

Susceptibility

to nonobstructive azoospermia (NOA)

Variant & Polymorphism other	a splice-acceptor site mutation that probably causes a nonfunctional SOHLH1 protein results in nonobstructive azoospermia by the lack of normal spermatogenesis (

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Sohlh1 knockout (KO) male mice displayed meiotic defects at the zygotene stage during spermatogenesis