Description

  • Product name

    Human ALMS1 peptide
  • Animal free

    No
  • Nature

    Synthetic
    • Species

      Human
    • Sequence

      C-RVTNQLLGRKVPWD
    • Amino acids

      4145 to 4167

Associated products

Specifications

Our Abpromise guarantee covers the use of ab23023 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Blocking - Blocking peptide for Anti-ALMS1 antibody (ab4306)

  • Form

    Lyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

  • Reconstitution
    Reconstitute to 1mg/ml with water. (Lyophilised from water.)

General Info

  • Alternative names

    • Alms1
    • ALMS1_HUMAN
    • ALSS
    • Alstrom syndrome 1
    • Alstrom syndrome protein 1
    see all
  • Function

    Possible role in intracellular trafficking.
  • Tissue specificity

    Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level).
  • Involvement in disease

    Defects in ALMS1 are the cause of Alstrom syndrome (ALMS) [MIM:203800]. Alstrom syndrome is a rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and type 2 diabetes mellitus. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.
  • Developmental stage

    Widely expressed in fetal tissues. Detected in fetal pancreas, skeletal muscle, liver, kidney and brain (at protein level). Expressed in fetal aorta and brain.
  • Post-translational
    modifications

    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localization

    Cytoplasm. Cytoplasm > cytoskeleton > centrosome. Cytoplasm > cytoskeleton > cilium basal body. Cytoplasm > cytoskeleton > spindle pole. Associated with centrosomes and basal body at the base of primary cilia. During mitosis localizes to both spindle poles.
  • Information by UniProt

References

ab23023 has not yet been referenced specifically in any publications.

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