Mouse Anti-HYLS1 Recombinant Antibody (CBFYH-2572) (CBMAB-H3595-FY)

Name: Mouse Anti-HYLS1 Recombinant Antibody (CBFYH-2572)
SKU: CBMAB-H3595-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYH-2572

Application

WB, IP, IF, ELISA

Specificity

Human

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

Target

Full Name

HYLS1, Centriolar And Ciliogenesis Associated

Introduction

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Entrez Gene ID

219844

UniProt ID

Q96M11

Alternative Names

HYLS1, Centriolar And Ciliogenesis Associated; Hydrolethalus Syndrome 1; HLS; Hydrolethalus Syndrome Protein 1

Function

Plays a role in ciliogenesis.

Biological Process

Cilium assembly Source: UniProtKB

Cellular Location

Cytoplasm; Centrosome; Centriole; Cilium

Involvement in disease

Hydrolethalus syndrome 1 (HLS1):
A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. Defects in HYLS1 may be involved in ciliopathies other than hydrolethalus syndrome 1. A homozygous mutation resulting in a C-terminal extension of 11 residues has been found in patients diagnosed as Joubert syndrome, a ciliopathy presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

Huang, Z. (2023). HYLS1 is a Centriolar Protein Required For Centriole Structural Integrity and Ciliogenesis (Doctoral dissertation, Johns Hopkins University).

Chen, C., Xu, Q., Zhang, Y., Davies, B. A., Huang, Y., Katzmann, D. J., ... & Ling, K. (2021). Ciliopathy protein HYLS1 coordinates the biogenesis and signaling of primary cilia by activating the ciliary lipid kinase PIPKIγ. Science Advances, 7(26), eabe3401.

Ghesh, L., Musquer, M. D., Devisme, L., Stichelbout, M., Boutaud, L., Elkhartoufi, N., ... & Beneteau, C. (2021). The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome. Clinical Genetics, 100(4), 462-467.

Hou, Y., Wu, Z., Zhang, Y., Chen, H., Hu, J., Guo, Y., ... & Wei, Q. (2020). Functional analysis of hydrolethalus syndrome protein HYLS1 in ciliogenesis and spermatogenesis in Drosophila. Frontiers in Cell and Developmental Biology, 8, 301.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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