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FLASH GENE

Symbol

ABCC8

contributors: mct - updated : 30-06-2015

HGNC name	ATP-binding cassette, sub-family C (CFTR/MRP), member 8
HGNC id	59

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HHF1 , PHHIF , PNDM2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     gain of function F132L, constitute a new genetic aetiology for neonatal diabetes and they act by reducing the K(ATP) channel's ATP sensitivity constitutional       gain of function cause beta-cell dysfunction with non-autoimmune diabetes mellitus in neonates or infants

Susceptibility

may be a minor contributor of NIDDM and obesity in French Caucasians, and hyperinsulinemia in non diabetic Mexican Americans

Variant & Polymorphism SNP	R1273R
	S1369A increasing the risk of type 2 diabetes

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology acquired   suppression of ABCC8 with antisense oligodeoxynucleotide after spinal cord injury presents an opportunity for reducing the devastating sequelae of spinal cord injury

ANIMAL & CELL MODELS

Abcc8(-/-) mice given antisense oligodeoxynucleotide against Abcc8 prevented progressive hemorrhagic necrosis, yielded significantly better neurological function, and resulted in lesions that were one-fourth to one-third the size of those in control animals