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VPS33B

VPS33B

Protein-coding gene in the species Homo sapiens

sorting-associated protein 33B is a protein that in humans is encoded by the VPS33B gene. Vesicle mediated protein sorting plays an important role in segregation

VPS33B

Arthrogryposis–renal dysfunction–cholestasis syndrome

Medical condition

dysfunction–cholestasis syndrome is a cutaneous condition caused by a mutation in the VPS33B gene. Multiple sulfatase deficiency List of cutaneous conditions RESERVED

Arthrogryposis–renal dysfunction–cholestasis syndrome

Arthrogryposis–renal_dysfunction–cholestasis_syndrome

SNARE protein

Protein family

Other EHD protein family: EHD1 EHD2 EHD3 EHD4 Sorting nexins Vacuolar protein sorting: VPS13B VPS33B SYNRG See also vesicular transport protein disorders

SNARE protein

SNARE_protein

Ichthyosis

Family of disorders causing dry, thickened, scaly skin

Arthrogryposis, renal dysfunction, cholestasis syndrome 208085 Autosomal recessive VPS33B Keratitis-ichthyosis-deafness syndrome 602450 148210 Autosomal dominant

Ichthyosis

List of genetic disorders

FGFR2 1:65,000-80,000 Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B 1:78,000,000 Arboleda-Tham Syndrome KAT6A(8p11.21) Dominant Ataxia telangiectasia

List of genetic disorders

List_of_genetic_disorders

GATA1

Protein-coding gene in humans

autosomal recessive disease of Arc syndrome caused by mutations in either the VPS33B (on human chromosome 15 at q26) or VIPAS39 (on chromosome 14 at q34); the

GATA1

VIPAS39

Protein-coding gene in the species Homo sapiens

Biotechnology Information, U.S. National Library of Medicine. "Entrez Gene: VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog"

VIPAS39

NOXRED1

Human gene

TraffickingProtein Family Member 8 (TMED8), Sterile Alpha Motif Domain 15 (SAMD15), VPS33B Interacting Protein (VIPAS39), and Activator of HSP90 ATPase Activity 1

NOXRED1

List of OMIM disorder codes

611890; GLE1 Arthrogryposis, renal dysfunction, and cholestasis 1; 208085; VPS33B Arthrogryposis, renal dysfunction, and cholestasis 2; 613404; VIPAR Arthropathy

List of OMIM disorder codes

List_of_OMIM_disorder_codes

List of human protein-coding genes 9

Q9UK41 18161 VPS29 HGNC:14340; Q9UBQ0 18162 VPS33A HGNC:18179; Q96AX1 18163 VPS33B HGNC:12712; Q9H267 18164 VPS35 HGNC:13487; Q96QK1 18165 VPS35L HGNC:24641;

List of human protein-coding genes 9

List_of_human_protein-coding_genes_9