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FLASH GENE

Symbol

COL4A1

contributors: shn/mct - updated : 06-11-2017

HGNC name	collagen, type IV, alpha 1
HGNC id	2202

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PRCF , HANAC , COSS , WLKWS9 , BSVD , COL4A1D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in cerebral hemorrhage and porencephaly constitutional germinal mutation       in anophthalmia/microphthalmia (A/M) (PMID; constitutional germinal mutation       in non-syndromic, autosomal dominant congenital cataract

Susceptibility

to perinatal cerebral haemorrhage and porencephaly

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial     endothelial-specific inhibitory actions of recombinant alpha1(IV)NC1 (COL4A1) may be of benefit in the treatment of a variety of eye diseases with a neovascular component cardiovascular     a mechanism-based therapy promoting protein folding might prevent intracerebral hemorrhage (ICH) in patients with COL4A1 and COL4A2 mutations

ANIMAL & CELL MODELS

	Col4a1 mutant mouse develops porencephaly secondary to focal disruptions of vascular basement membranes and dies with cerebral hemorrhage within a day of birth (Gould et al, 2005)
	Col4a1 mutant mice develop progressive skeletal myopathy
	HANAC mutant mice presented with a muscular functional impairment and increased serum creatine kinase levels reflecting altered muscle fiber sarcolemma
	heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of MEB/WWS