Hyccin; Down regulated by Ctnnb1 a; Down regulated by CTNNB1 protein A; Down-regulated by CTNNB1 protein A; DRCTNNB1A; FAM126A; Family with sequence similarity 126 member A; HCC; HLD5; HYCC1; HYCCI_HUMAN antibody Hyccin; Protein FAM126A.
KLH conjugated synthetic peptide derived from human FAM126A:1-100/521
Format：
Liquid
Storage instructions：
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration：
1mg/ml
Clonality：
Polyclonal
Isotype：
IgG
Applications：
WB=1:500-2000ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host：
Rabbit
Product Overview：
Sample: Heart (Mouse) Lysate at 40 ugPrimary: Anti-FAM126A (SL11554R) at 1/300 dilutionSecondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilutionPredicted band size: 58 kDObserved band size: 58 kD
Hyccin is a 521 amino acid cytoplasmic protein that is widely expressed with highest levels found in heart, brain, placenta, spleen and testis. Belonging to the FAM126 family, hyccin may play a role in the ∫-catenin/Lef signaling pathway. Hyccin is likely involved in the process of myelination of the central and peripheral nervous system. Defects in the gene encoding hyccin are the cause of leukodystrophy hypomyelinating type 5 (HLD5), which is characterized by congenital cataract, progressive neurologic impairment and diffuse myelin deficiency. Individuals affected by HLD5 experience progressive pyramidal and cerebellar dysfunction along with muscle weakness in the lower limbs. Hyccin exists as two alternatively spliced isoforms and is encoded by a gene located on human chromosome 7.
Function: May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system.
Subcellular Location: Cytoplasm. Membrane. According to PubMed:10910037, it is mainly cytoplasmic while according to PubMed:16951682, it is a membrane protein.
Tissue Specificity: Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.
DISEASE: Defects in FAM126A are the cause of leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532]. This disorder is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate.
