Disease Name:
Lattice corneal dystrophy type 1
ISA Name:
AKer Amyloidosis
Alternative Names:
Biber-Haab-Dimmer Dystrophy
Corneal Dystrophy, Lattice Type I
Corneal dystrophy, lattice type 1
Lattice Corneal Dystrophy Type I
Lattice Corneal Dystrophy, Type I
Classic lattice corneal dystrophy
LCD1
LCDI
LCD
CDL1
MeSH Description:
A hereditary autosomal dominant form of corneal dystrophy with significant phenotypic variability. It is characterized by polymorphic geographic deposits at Bowman's membrane, lattice corneal dystrophy, recurrent corneal ulceration, and mild progressive visual impairment. Mutations in the TGBFI gene have been identified.
Type:
Amyloidosis
ICD-10 Classification
Diseases of the Eye and Adnexa
Tissue:
Eye
Precursor Proteins:
Q15582: Transforming growth factor-beta-induced protein ig-h3
Primary Name:
Transforming growth factor-beta-induced protein ig-h3
Gene Name:
TGFBI
Alternative Protein Names:
Transforming growth factor-beta-induced protein ig-h3 (Beta ig-h3) (Kerato-epithelin) (RGD-containing collagen-associated protein) (RGD-CAP)
ISA Nomenclature:
AKer
Protein Length:
683
Precursor Protein Sequence:
MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNRKYFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETLGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLVSNVNIELLNALRYHMVGRRVLTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTITNNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPTNEAFEKIPSETLNRILGDPEALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCSGDMLTINGKAIISNKDILATNGVIHYIDELLIPDSAKTLFELAAESDVSTAIDLFRQAGLGNHLSGSERLTLLAPLNSVFKDGTPPIDAHTRNLLRNHIIKDQLASKYLYHGQTLETLGGKKLRVFVYRNSLCIENSCIAAHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLTETLNREGVYTVFAPTNEAFRALPPRERSRLLGDAKELANILKYHIGDEILVSGGIGALVRLKSLQGDKLEVSLKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDELADSALEIFKQASAFSRASQRSVRLAPVYQKLLERMKH
UniProt AC:
Q15582
UniProt ID:
BGH3_HUMAN
AmyPro:
AP00095
Co-deposited Proteins:
P02649: Apolipoprotein E
Primary Name:
Apolipoprotein E
Gene Name:
APOE
Association Source:
10502582
Protein Names:
Apolipoprotein E (Apo-E)
Protein Length:
317
Protein Sequence:
MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKSWFEPLVEDMQRQWAGLVEKVQAAVGTSAAPVPSDNH
UniProt AC:
P02649
UniProt ID:
APOE_HUMAN
P10909: Clusterin
Primary Name:
Clusterin
Gene Name:
CLU
Association Source:
10502582
Protein Names:
Clusterin (Aging-associated gene 4 protein) (Apolipoprotein J) (Apo-J) (Complement cytolysis inhibitor) (CLI) (Complement-associated protein SP-40,40) (Ku70-binding protein 1) (NA1/NA2) (Testosterone-repressed prostate message 2) (TRPM-2) [Cleaved into: Clusterin beta chain (ApoJalpha) (Complement cytolysis inhibitor a chain); Clusterin alpha chain (ApoJbeta) (Complement cytolysis inhibitor b chain)]
Protein Length:
449
Protein Sequence:
MMKTLLLFVGLLLTWESGQVLGDQTVSDNELQEMSNQGSKYVNKEIQNAVNGVKQIKTLIEKTNEERKTLLSNLEEAKKKKEDALNETRESETKLKELPGVCNETMMALWEECKPCLKQTCMKFYARVCRSGSGLVGRQLEEFLNQSSPFYFWMNGDRIDSLLENDRQQTHMLDVMQDHFSRASSIIDELFQDRFFTREPQDTYHYLPFSLPHRRPHFFFPKSRIVRSLMPFSPYEPLNFHAMFQPFLEMIHEAQQAMDIHFHSPAFQHPPTEFIREGDDDRTVCREIRHNSTGCLRMKDQCDKCREILSVDCSTNNPSQAKLRRELDESLQVAERLTRKYNELLKSYQWKMLNTSSLLEQLNEQFNWVSRLANLTQGEDQYYLRVTTVASHTSDSDVPSGVTEVVVKLFDSDPITVTVPVEVSRKNPKFMETVAEKALQEYRKKHREE
UniProt AC:
P10909
UniProt ID:
CLUS_HUMAN
