DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V1E1 and autosomal recessive cutis laxa type IA

ATP6V1E1 [ENSP00000253413]

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; V-type ATPases

Synonyms:  ATP6V1E1,  C9J8H1,  P36543,  Q53Y06,  ATP6E ...

Linkouts:  STRING  Pharos  UniProt  OMIM