PEX11B gene

peroxisomal biogenesis factor 11 beta

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]

From UniProt:

Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Peroxisome biogenesis disorder 14B

From UniProt:

Peroxisome biogenesis disorder 14B (PBD14B): An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed. [MIM:614920]

Cytogenetic Location: 1q21.1, which is the long (q) arm of chromosome 1 at position 21.1

Molecular Location: base pairs 145,911,348 to 145,918,924 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q21.1, which is the long (q) arm of chromosome 1 at position 21.1
  • PEX11-BETA
  • PEX14B