RER1
Description
The RER1 (retention in endoplasmic reticulum sorting receptor 1) is a protein-coding gene located on chromosome 1.
RER1 is a human gene that encodes a protein involved in the transport of proteins within the cell. Specifically, RER1 helps to ensure that ER membrane proteins are correctly localized within the cell by retrieving them from the early Golgi compartment.
RER1 is involved in the retrieval of endoplasmic reticulum (ER) membrane proteins from the early Golgi compartment, ensuring their proper localization and function.
RER1 is also known as -.
Associated Diseases
- peroxisome biogenesis disorder 6A (Zellweger)
- peroxisome biogenesis disorder 1A (Zellweger)
- pachyonychia congenita
- exercise intolerance, riboflavin-responsive
- spinal muscular atrophy, type IV
- autosomal dominant distal myopathy
- amyotrophic lateral sclerosis
- tubular aggregate myopathy
- autosomal recessive limb-girdle muscular dystrophy type 2L
- autosomal recessive limb-girdle muscular dystrophy type 2G
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- muscular dystrophy, limb-girdle, autosomal recessive 23
