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Q6UXH8 Proteins Collagen-like domain Repeats
Uniprot ID:Q6UXH8
Protein name: Collagen and calcium-binding EGF domain-containing protein 1
Gene : CCBE1 KIAA1983 UNQ1921/PRO4395
Protein Family:CCBE1 family
Squence Length : 406
Sequnce
>Q6UXH8 407 MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCLKSSGELTTCYRKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYDRERHRKREKPYCLDIDECASSNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKYPNDTGHEKSENMVKAGTCCATCKEFYQMKQTVLQLKQKIALLPNNAADLGKYITGDKVLASNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSPDLSHIKQGRRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDITELQEKVFGHRTHSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP
Domains
DOMAIN 134 175 EGF-like calcium-binding DOMAIN 245 290 Collagen-like 1 DOMAIN 300 333 Collagen-like 2
Collagen-like sequence regions
245 - 290 GPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSP 300 - 333 RGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSF
Function
Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis
Disease
"DISEASE: Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510]: A generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face In addition, affected individuals have unusual facies and severe mental retardation Note=The disease is caused by mutations affecting the gene represented in this entry"