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FLASH GENE

Symbol

DPYSL3

contributors: mct - updated : 27-09-2018

HGNC name	dihydropyrimidinase-like 3
HGNC id	3015

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in Down syndrome

Susceptibility

to Autism spectrum disorders (ASD) to amyotrophic lateral sclerosis (ALS)

Variant & Polymorphism SNP , other	variant (S541Y) of DPYSL3 in a male ASD patient, mutation resulting in altered DPYSL3 function in neurons, more severe in the male, indicating a functional link between a case-specific, rare variant of DPYSL3, and several characteristics of ASD, including sexual differences
	association between the rs147541241 variant and ALS; this variant variant appears to shorten motor neuron survival through a detrimental effect on axonal growth

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Crmp4-deficient mice (Crmp4-/- ) displayed a 40p100 increase in bone mass, increased mineral apposition rate, and bone formation rate, compared to wild-type controls