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ACY1

ACY1

Aminoacylase-1 is an enzyme that in humans is encoded by the ACY1 gene. Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes

Aminoacylase 1 deficiency

inherited in an autosomal recessive fashion.[citation needed] Aminoacylase 1 (ACY1: EC 3.5.14) is a zinc binding enzyme which hydrolyzes N-acetyl amino acids

Aminoacylase

disease caused by an autosomal recessive mutation in the aminoacylase 1 gene (ACY1) on chromosome 3p21. The lack of functional aminoacylase 1 caused by A1D

ZTTK syndrome

(TUBG1, FLNA, PNKP, WDR62, PSMD3, HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA). Aberrant SON-mediated RNA splicing results from the accumulation

List of human protein-coding genes 1

HGNC:173; P27037 240 ACVR2B HGNC:174; Q13705 241 ACVRL1 HGNC:175; P37023 242 ACY1 HGNC:177; Q03154 243 ACY3 HGNC:24104; Q96HD9 244 ACYP1 HGNC:179; P07311 245

Diazepam binding inhibitor

Rosseels J, et al. (1996). "A human gene encoding diazepam-binding inhibitor/acy1-CoA-binding protein: transcription and hormonal regulation in the androgen-sensitive

List of OMIM disorder codes

imperfecta, type IIA2; 612529; MMP20 Aminoacylase 1 deficiency; 609924; ACY1 Amish infantile epilepsy syndrome; 609056; SIAT9 Amyloidosis, 3 or more types;