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Medical condition
40s. The cause of the disease is a haploinsufficiency of the enzyme ATP2C1; the ATP2C1 gene is located on chromosome 3, which encodes the protein hSPCA1
Hailey–Hailey_disease
Protein-coding gene in the species Homo sapiens
Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene. This gene encodes one of the SPCA proteins, a Ca2+ ion-transporting
ATP2C1
Dephosphorylation enzyme
Ca2+ transporting: ATP2A1, ATP2A2, ATP2A3, ATP2B1, ATP2B2, ATP2B3, ATP2B4, ATP2C1, ATP2C2 H+/K+ exchanging: ATP4A H+ transporting, mitochondrial: ATP5F1A
ATPase
Topics referred to by the same term
HHD may refer to: ATP2C1, a human enzyme Hailey–Hailey disease, a genetic disorder Hiatus hernia diafragmatica, a medical condition Home hemodialysis,
HHD
Griscelli syndrome MYO5A, RAB27A, MLPH Gustavson syndrome Hailey–Hailey disease ATP2C1 (3) Harlequin type ichthyosis ABCA12 Hemochromatosis type 1 HFE (chromosome
List_of_genetic_disorders
Cell junction involved in cell-to-cell adhesion
though the cause is not autoimmune but genetic. A haploinsufficiency of the ATP2C1 gene located on chromosome 3, which encodes the protein hSPCA1, causes malformation
Desmosome
Transport protein
Ca2+-ATPase, is a calcium ATPase-type P-ATPase encoded for by the genes ATP2C1 and ATP2C2. SPCA is found primarily in the membranes of the golgi apparatus
Secretory_Pathway_Ca²⁺_ATPase
HGNC:815; Q01814 1238 ATP2B3 HGNC:816; Q16720 1239 ATP2B4 HGNC:817; P23634 1240 ATP2C1 HGNC:13211; P98194 1241 ATP2C2 HGNC:29103; O75185 1242 ATP4A HGNC:819; P20648
List of human protein-coding genes 1
List_of_human_protein-coding_genes_1
Protein family
Ca2+ ATPase: ATP2A1, ATP2A2, ATP2A3 P2A: secretory pathway Ca2+-ATPase: ATP2C1, ATP2C2 P2B: Ca2+ ATPase: ATP2B1, ATP2B2, ATP2B3, ATP2B4 P2C: Na+/K+ ATPase:
P-type_ATPase
ATP2A2 SERCA2 protein Darier disease Acrokeratosis verruciformis of Hopf ATP2C1 Hailey–Hailey disease ATP7A Menkes kinky hair syndrome Occipital horn syndrome
List of genes mutated in cutaneous conditions
List_of_genes_mutated_in_cutaneous_conditions
Gene which maintains basic cellular functions
sapiens low molecular mass ubiquinone-binding protein (9.5kD) (QP-C), mRNA ATP2C1 NM_014382 ATP5F1A NM_004046 Homo sapiens ATP synthase, H+ transporting,
Housekeeping_gene
258870; OAT Haddad syndrome; 209880; ASCL1 Hailey–Hailey disease; 169600; ATP2C1 Haim–Munk syndrome; 245010; CTSC Hallermann–Streiff syndrome; 234100; GJA1
List_of_OMIM_disorder_codes
ATP2C1
ATP2C1
ATP2C1
ATP2C1
ATP2C1
ATP2C1
ATP2C1
ATP2C1
ATP2C1