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LTBP2

LTBP2

Protein-coding gene in the species Homo sapiens

factor beta-binding protein 2 is a protein that in humans is encoded by the LTBP2 gene. The protein encoded by this gene belongs to the family of latent transforming

LTBP2

Glaucoma

Group of eye diseases related to poor retinal and nerve perfusion

primary congenital glaucoma, which is associated with mutations in CYP1B1 or LTBP2. They are inherited in an autosomal recessive fashion. Axenfeld-Rieger syndrome

Glaucoma

Microspherophakia

Medical condition

form the usual oval shape. It is a result of a homozygous mutation to the LTBP2 gene. Ectopia lentis "Spherophakia". University of Arizona. Retrieved 2012-08-20

Microspherophakia

EGF-like domain

Protein domain named after the epidermal growth factor protein

JAG1; JAG2; LDLR; LRP1; LRP10; LRP1B; LRP2; LRP4; LRP5; LRP6; LRP8; LTBP1; LTBP2; LTBP3; LTBP4; MATN1; MATN2; MATN3; MATN4; MEGF12; MEGF6; MEP1A; MEP1B;

EGF-like domain

EGF-like_domain

Weill–Marchesani syndrome

Rare generic disorder

and generally, treatments are given to improve quality of life. ADAMTS17 LTBP2 "Weill-Marchesani syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved

Weill–Marchesani syndrome

Weill–Marchesani_syndrome

Latent TGF-beta binding protein

Family of carrier proteins

latent transforming growth factor beta binding protein 2 Identifiers Symbol LTBP2 Alt. symbols LTBP3, C14orf141 NCBI gene 4053 HGNC 6715 OMIM 602091 RefSeq

Latent TGF-beta binding protein

Latent_TGF-beta_binding_protein

LTBP3

Protein-coding gene in the species Homo sapiens

"Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2)" (PDF). Mamm Genome. 6 (1): 42–5. doi:10.1007/BF00350892. hdl:2027.42/47013

LTBP3

SNED1

Extracellular matrix protein

TNR, and TNXB), fibronectin (FN1), the latent-TGFβ binding protein 2 (LTBP2), and the basement membrane glycoproteins nidogens 1 and 2. Independently

SNED1

List of human protein-coding genes 4

Q15722 8996 LTB4R2 HGNC:19260; Q9NPC1 8997 LTBP1 HGNC:6714; Q14766 8998 LTBP2 HGNC:6715; Q14767 8999 LTBP3 HGNC:6716; Q9NS15 9000 LTBP4 HGNC:6717; Q8N2S1

List of human protein-coding genes 4

List_of_human_protein-coding_genes_4

List of OMIM disorder codes

adult onset; 137760; GLC1B Glaucoma 3, primary congenital, D; 613086; LTBP2 Glaucoma 3A, primary congenital; 231300; CYP1B1 Glaucoma, primary open angle

List of OMIM disorder codes

List_of_OMIM_disorder_codes