Protein name: ANKH Aliases: N/D Substrates: Pyrophosphate [PMID: 10894769] Transport type: N/D Tissue and cellular expression: Kidney, bone [PMID: 19910700] Subcellular expression: Plasma membrane [PMID: 10894769]; cilial/basal body localization [PMID: 19910700] Disease: Craniometaphyseal dysplasia [PMID: 11326272] [PMID: 11326338], familial calcium pyrophosphate dihydrate deposition disease (chondrocalcinosis) [PMID: 12297989], ankylosing spondylitis [PMID: 15899038] Locus: 5p15.2 Sequence ID: NP_473368.1, NM_054027.4 Gene ID: 56172 Splice variants: N/D


Gene names: ANKH, KIAA1581, UNQ241/PRO274
Protein names and data: ANKH_HUMAN, Full=Progressive ankylosis protein homolog; Short=ANK Length: 492 a.a., Mass: 54241 Da,
fasta formatted sequence

Database cross-references

UniProt: Q9HCJ1
OMIM: 118600 123000 605145
Ensembl: ENST00000284268
GeneCard: ANKH
TCDB: 2.A.66.9.1
HGNC: HGNC:15492

Genetic variants

See also Ensembl:ENST00000284268