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EFEMP2

EFEMP2

Protein-coding gene in the species Homo sapiens

extracellular matrix protein 2 is a protein that in humans is encoded by the EFEMP2 gene. A large number of extracellular matrix proteins have been found to

EFEMP2

Cutis laxa

Skin which is abnormally inelastic and hangs loosely

PMID 20301755. NBK5200. In GeneReviews Loeys B, De Paepe A, Urban Z (2011-05-12). EFEMP2-Related Cutis Laxa. University of Washington, Seattle. PMID 21563328. NBK54467

Cutis laxa

Cutis_laxa

Mammalian protein found in humans

Cdk1, CFLAR, CHEK1, CCNG1, CREBBP, CREB1, Cyclin H, CDK7, DNA-PKcs, E4F1, EFEMP2, EIF2AK2, ELL, EP300, ERCC6, GNL3, GPS2, GSK3B, HSP90AA1, HIF1A, HIPK1,

P53

List of human protein-coding genes 3

O75071 4755 EFCC1 HGNC:25692; Q9HA90 4756 EFEMP1 HGNC:3218; Q12805 4757 EFEMP2 HGNC:3219; O95967 4758 EFHB HGNC:26330; Q8N7U6 4759 EFHC1 HGNC:16406; Q5JVL4

List of human protein-coding genes 3

List_of_human_protein-coding_genes_3

SCARF syndrome

Medical condition

mutations in several different genes. These genes include ATP6V0A2, ATP7A, EFEMP2, ELN, and FBLN5. These genes are responsible for elastic fibers, specifically

SCARF syndrome

SCARF_syndrome

List of OMIM disorder codes

recessive; 219100; FBLN5 Cutis laxa, autosomal recessive, type I; 219100; EFEMP2 Cutis laxa, autosomal recessive, type II; 219200; ATP6V0A2 Cutis laxa, autosomal

List of OMIM disorder codes

List_of_OMIM_disorder_codes