XB-FEAT-941394

hps4

This is the community wiki page for the gene hps4 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

04/22/ 2016

Human name has changed for Entrez Gene: 89781. From Hermansky-Pudlak syndrome 4 to HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

inheritance and albinism caused by hps4 mutation

exert from PubMed ID: 33147376. Genes Cells November 4, 2020; "Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky-Pudlak syndrome type 4 gene." Author: TOSHIHIKO FUKUZAWA (Orcid ID : 0000-0002-8624-393X)

" In the allotetraploid  frog X.  laevis,  a  long  (L)  and  short  (S)  subgenome  (chromosomes)  is present (Matsuda et al., 2015; Session et al., 2016). It has been shown that homoeologous genes are present in both L and S subgenome chromosomes in X. laevis, although certain genes are lost in the chromosomes of subgenome S (Session et al., 2016). Comparison of the genome sequences between chromosomes 1L and 1S showed that the hps4 gene was present only in chromosome 1L. The hps4.L gene in the wild-type X. laevis consists of 13 exons interrupted by 12 introns. Since the hps4.L mRNA of the periodic albino mutant was found to lack exons 7 and 8, genomic sequencing of the hps4.L gene between exons 6 and 9 were performed. DNA sequencing revealed that a 1.9 kb deletion in the hps4.L gene including exons 7 and 8 caused a premature stop codon to create a truncated Hps4 protein in the periodic albino."